Extensive collections, reputedly complete, of facts and data garnered from material of a specialized subject area and made available for analysis and application. The collection can be automated by various contemporary methods for retrieval. The concept should be differentiated from DATABASES, BIBLIOGRAPHIC which is restricted to collections of bibliographic references.
Databases as Topic
Extensive collections, reputedly complete, of references and citations to books, articles, publications, etc., generally on a single subject or specialized subject area. Databases can operate through automated files, libraries, or computer disks. The concept should be differentiated from DATABASES, FACTUAL which is used for collections of data and facts apart from bibliographic references to them.
Databases, Nucleic Acid
Information Storage and Retrieval
Database Management Systems
A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories for solving biological problems including manipulation of models and datasets.
Expressed Sequence Tags
Randomized Controlled Trials as Topic
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
Abstracting and Indexing as Topic
Sequence Analysis, Protein
Sequence Analysis, DNA
Terminology as Topic
Molecular Sequence Data
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
A bibliographic database that includes MEDLINE as its primary subset. It is produced by the National Center for Biotechnology Information (NCBI), part of the NATIONAL LIBRARY OF MEDICINE. PubMed, which is searchable through NLM's Web site, also includes access to additional citations to selected life sciences journals not in MEDLINE, and links to other resources such as the full-text of articles at participating publishers' Web sites, NCBI's molecular biology databases, and PubMed Central.
Computer Communication Networks
A specified list of terms with a fixed and unalterable meaning, and from which a selection is made when CATALOGING; ABSTRACTING AND INDEXING; or searching BOOKS; JOURNALS AS TOPIC; and other documents. The control is intended to avoid the scattering of related subjects under different headings (SUBJECT HEADINGS). The list may be altered or extended only by the publisher or issuing agency. (From Harrod's Librarians' Glossary, 7th ed, p163)
Molecular Sequence Annotation
Amino Acid Sequence
Gene Expression Profiling
An approach of practicing medicine with the goal to improve and evaluate patient care. It requires the judicious integration of best research evidence with the patient's values to make decisions about medical care. This method is to help physicians make proper diagnosis, devise best testing plan, choose best treatment and methods of disease prevention, as well as develop guidelines for large groups of patients with the same disease. (from JAMA 296 (9), 2006)
Review Literature as Topic
Published materials which provide an examination of recent or current literature. Review articles can cover a wide range of subject matter at various levels of completeness and comprehensiveness based on analyses of literature that may include research findings. The review may reflect the state of the art. It also includes reviews as a literary form.
Reproducibility of Results
The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.
The influence of study results on the chances of publication and the tendency of investigators, reviewers, and editors to submit or accept manuscripts for publication based on the direction or strength of the study findings. Publication bias has an impact on the interpretation of clinical trials and meta-analyses. Bias can be minimized by insistence by editors on high-quality research, thorough literature reviews, acknowledgement of conflicts of interest, modification of peer review practices, etc.
A method of comparing the cost of a program with its expected benefits in dollars (or other currency). The benefit-to-cost ratio is a measure of total return expected per unit of money spent. This analysis generally excludes consideration of factors that are not measured ultimately in economic terms. Cost effectiveness compares alternative ways to achieve a specific set of results.
Directories as Topic
Medical Records Systems, Computerized
National Library of Medicine (U.S.)
An agency of the NATIONAL INSTITUTES OF HEALTH concerned with overall planning, promoting, and administering programs pertaining to advancement of medical and related sciences. Major activities of this institute include the collection, dissemination, and exchange of information important to the progress of medicine and health, research in medical informatics and support for medical library development.
Natural Language Processing
Medical Record Linkage
Metabolic Networks and Pathways
Meta-Analysis as Topic
A quantitative method of combining the results of independent studies (usually drawn from the published literature) and synthesizing summaries and conclusions which may be used to evaluate therapeutic effectiveness, plan new studies, etc., with application chiefly in the areas of research and medicine.
The science concerned with the benefit and risk of drugs used in populations and the analysis of the outcomes of drug therapies. Pharmacoepidemiologic data come from both clinical trials and epidemiological studies with emphasis on methods for the detection and evaluation of drug-related adverse effects, assessment of risk vs benefit ratios in drug therapy, patterns of drug utilization, the cost-effectiveness of specific drugs, methodology of postmarketing surveillance, and the relation between pharmacoepidemiology and the formulation and interpretation of regulatory guidelines. (Pharmacoepidemiol Drug Saf 1992;1(1); J Pharmacoepidemiol 1990;1(1))
Sequence Homology, Amino Acid
A set of statistical methods used to group variables or observations into strongly inter-related subgroups. In epidemiology, it may be used to analyze a closely grouped series of events or cases of disease or other health-related phenomenon with well-defined distribution patterns in relation to time or place or both.
Drug Information Services
Unified Medical Language System
A research and development program initiated by the NATIONAL LIBRARY OF MEDICINE to build knowledge sources for the purpose of aiding the development of systems that help health professionals retrieve and integrate biomedical information. The knowledge sources can be used to link disparate information systems to overcome retrieval problems caused by differences in terminology and the scattering of relevant information across many databases. The three knowledge sources are the Metathesaurus, the Semantic Network, and the Specialist Lexicon.
A computerized biomedical bibliographic storage and retrieval system operated by the NATIONAL LIBRARY OF MEDICINE. MEDLARS stands for Medical Literature Analysis and Retrieval System, which was first introduced in 1964 and evolved into an online system in 1971 called MEDLINE (MEDLARS Online). As other online databases were developed, MEDLARS became the name of the entire NLM information system while MEDLINE became the name of the premier database. MEDLARS was used to produce the former printed Cumulated Index Medicus, and the printed monthly Index Medicus, until that publication ceased in December 2004.
Sensitivity and Specificity
International Classification of Diseases
A system of categories to which morbid entries are assigned according to established criteria. Included is the entire range of conditions in a manageable number of categories, grouped to facilitate mortality reporting. It is produced by the World Health Organization (From ICD-10, p1). The Clinical Modifications, produced by the UNITED STATES DEPT. OF HEALTH AND HUMAN SERVICES, are larger extensions used for morbidity and general epidemiological purposes, primarily in the U.S.
Sequence Analysis, RNA
Dictionaries as Topic
Pattern Recognition, Automated
Oligonucleotide Array Sequence Analysis
Computerized compilations of information units (text, sound, graphics, and/or video) interconnected by logical nonlinear linkages that enable users to follow optimal paths through the material and also the systems used to create and display this information. (From Thesaurus of ERIC Descriptors, 1994)
Human Genome Project
Outcome Assessment (Health Care)
Open Reading Frames
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
Adverse Drug Reaction Reporting Systems
Data Interpretation, Statistical
A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)
Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.
Technology Assessment, Biomedical
Controlled Clinical Trials as Topic
Works about clinical trials involving one or more test treatments, at least one control treatment, specified outcome measures for evaluating the studied intervention, and a bias-free method for assigning patients to the test treatment. The treatment may be drugs, devices, or procedures studied for diagnostic, therapeutic, or prophylactic effectiveness. Control measures include placebos, active medicines, no-treatment, dosage forms and regimens, historical comparisons, etc. When randomization using mathematical techniques, such as the use of a random numbers table, is employed to assign patients to test or control treatments, the trials are characterized as RANDOMIZED CONTROLLED TRIALS AS TOPIC.
Records as Topic
Polymorphism, Single Nucleotide
The ratio of two odds. The exposure-odds ratio for case control data is the ratio of the odds in favor of exposure among cases to the odds in favor of exposure among noncases. The disease-odds ratio for a cohort or cross section is the ratio of the odds in favor of disease among the exposed to the odds in favor of disease among the unexposed. The prevalence-odds ratio refers to an odds ratio derived cross-sectionally from studies of prevalent cases.
Hospital Information Systems
Medical Informatics Computing
Quality-Adjusted Life Years
Information application based on a variety of coding methods to minimize the amount of data to be stored, retrieved, or transmitted. Data compression can be applied to various forms of data, such as images and signals. It is used to reduce costs and increase efficiency in the maintenance of large volumes of data.
Protective measures against unauthorized access to or interference with computer operating systems, telecommunications, or data structures, especially the modification, deletion, destruction, or release of data in computers. It includes methods of forestalling interference by computer viruses or so-called computer hackers aiming to compromise stored data.
Health Services Research
The integration of epidemiologic, sociological, economic, and other analytic sciences in the study of health services. Health services research is usually concerned with relationships between need, demand, supply, use, and outcome of health services. The aim of the research is evaluation, particularly in terms of structure, process, output, and outcome. (From Last, Dictionary of Epidemiology, 2d ed)
Catalogs as Topic
Drug-Related Side Effects and Adverse Reactions
Clinical Trials as Topic
Works about pre-planned studies of the safety, efficacy, or optimum dosage schedule (if appropriate) of one or more diagnostic, therapeutic, or prophylactic drugs, devices, or techniques selected according to predetermined criteria of eligibility and observed for predefined evidence of favorable and unfavorable effects. This concept includes clinical trials conducted both in the U.S. and in other countries.
Sequence Homology, Nucleic Acid
United States Department of Veterans Affairs
Genetic Diseases, Inborn
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
Critical and exhaustive investigation or experimentation, having for its aim the discovery of new facts and their correct interpretation, the revision of accepted conclusions, theories, or laws in the light of newly discovered facts, or the practical application of such new or revised conclusions, theories, or laws. (Webster, 3d ed)
High-Throughput Nucleotide Sequencing
Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced. The sequencing may be done by analysis of the synthesis or ligation products, hybridization to preexisting sequences, etc.
Protein Structure, Tertiary
The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.
Protein Interaction Maps
Any deviation of results or inferences from the truth, or processes leading to such deviation. Bias can result from several sources: one-sided or systematic variations in measurement from the true value (systematic error); flaws in study design; deviation of inferences, interpretations, or analyses based on flawed data or data collection; etc. There is no sense of prejudice or subjectivity implied in the assessment of bias under these conditions.
Personal names, given or surname, as cultural characteristics, as ethnological or religious patterns, as indications of the geographic distribution of families and inbreeding, etc. Analysis of isonymy, the quality of having the same or similar names, is useful in the study of population genetics. NAMES is used also for the history of names or name changes of corporate bodies, such as medical societies, universities, hospitals, government agencies, etc.
Medical Informatics Applications
Structural Homology, Protein
Genetic Predisposition to Disease
Gene Regulatory Networks
Interacting DNA-encoded regulatory subsystems in the GENOME that coordinate input from activator and repressor TRANSCRIPTION FACTORS during development, cell differentiation, or in response to environmental cues. The networks function to ultimately specify expression of particular sets of GENES for specific conditions, times, or locations.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
A province of eastern Canada. Its capital is Quebec. The region belonged to France from 1627 to 1763 when it was lost to the British. The name is from the Algonquian quilibek meaning the place where waters narrow, referring to the gradually narrowing channel of the St. Lawrence or to the narrows of the river at Cape Diamond. (From Webster's New Geographical Dictionary, 1988, p993 & Room, Brewer's Dictionary of Names, 1992, p440)
Government Publications as Topic
A theorem in probability theory named for Thomas Bayes (1702-1761). In epidemiology, it is used to obtain the probability of disease in a group of people with some characteristic on the basis of the overall rate of that disease and of the likelihood of that characteristic in healthy and diseased individuals. The most familiar application is in clinical decision analysis where it is used for estimating the probability of a particular diagnosis given the appearance of some symptoms or test result.
A province of Canada lying between the provinces of Manitoba and Quebec. Its capital is Toronto. It takes its name from Lake Ontario which is said to represent the Iroquois oniatariio, beautiful lake. (From Webster's New Geographical Dictionary, 1988, p892 & Room, Brewer's Dictionary of Names, 1992, p391)
Access to Information
Electronic Health Records
Media that facilitate transportability of pertinent information concerning patient's illness across varied providers and geographic locations. Some versions include direct linkages to online consumer health information that is relevant to the health conditions and treatments related to a specific patient.
Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.
Observational Study as Topic
Forms and Records Control
"Genetic and phenotypic characterization of Phaeodactylum tricornutum (Bacillariophyceae) accessions". Journal of Phycology (43 ... The Diatom EST Database. Nucleic Acids Research 33: D344-D347. Chisti, Y (May-Jun 2007). "Biodiesel from microalgae". ... "Genetic and phenotypic characterization of Phaeodactylum tricornutum (Bacillariophyceae) accessions". Journal of Phycology. 43 ... This makes molecular genetic studies much easier. Phaeodactylum tricornutum was first described in the triradiate morphotype by ...
Cancer systems biology
"The DDBJ Japanese Genotype-phenotype Archive for genetic and phenotypic human data". Nucleic Acids Research. 43 (Database issue ... "KEGG PATHWAY Database". www.genome.jp. "Home - Reactome Pathway Database". reactome.org. Carro, MS; Lim, WK; Alvarez, MJ; Bollo ... "Human Metabolome Database". "Gene Regulation". www.gene-regulation.com. "JASPAR 2018: An open-access database of transcription ... 42 (Database issue): D926-32. doi:10.1093/nar/gkt1270. PMC 3964963. PMID 24304889. "GPMDB Proteome Database". "PRIDE Archive". ...
I. Genetic and phenotypic bases of wrinkly spreader fitness". Genetics. 161 (1): 33-46. PMC 1462107 . PMID 12019221. "Afghan ... Civilian Casualties Database Appears in Unexpected Place". Science , The Rundown News Blog , PBS NewsHour. PBS. 2011-03-11. ...
Genus Notechis at The Reptile Database Aubret F, Shine R (2009). "Genetic assimilation and the postcolonisation erosion of ... Young populations have larger heads by phenotypic plasticity, whereas large heads have become genetically assimilated in older ... A 2016 genetic analysis showed that the closest relative of the tiger snakes is the rough-scaled snake (Tropidechis carinatus ... Species Notechis scutatus at The Reptile Database "Notechis". Integrated Taxonomic Information System. Retrieved March 23, 2008 ...
"Phene" is used as to refer to relevant phenotypic traits in the OMIA (Online Mendelian Inheritance in Animals) database. One of ... It is a valuable concept in the genomic era where "phenes" or "traits" (symptoms) are used to distinguish groups with genetic ... Phenotype Phenotypic trait Online Mendelian Inheritance in Man (a database of human phenes) Allan, Charlotte L.; Cardno, AG; ... 34 (Database issue): D599-D601. doi:10.1093/nar/gkj152. PMC 1347514. PMID 16381939. Porter, Ian H (June 1973). "From gene to ...
List of model organisms
Its genetic features, including many known and mapped phenotypic mutants and a large number of progeny per cross (typically 100 ... Its genome sequence, along with a wide range of information concerning Arabidopsis, is maintained by the TAIR database. (Plant ... Its small stature and short generation time facilitates rapid genetic studies, and many phenotypic and biochemical mutants have ... genetic studies of mushroom development, genetic studies of meiosis) Cryptococcus neoformans, opportunistic human pathogen ...
2013 in science
8 February Scientists use an extensive genetic and phenotypic database to determine the common ancestor of all modern placental ... 21 May Genetic samples from a museum specimen have revealed the pathogen that caused the 19th-century Great Famine of Ireland. ... A new genetic analysis shows that the first rapid population growth of humans occurred in the Paleolithic (60,000-80,000 years ... "Database to help robots cope with complicated programmes". The Times of India. 9 March 2013. Archived from the original on 13 ...
"A scalable, aggregated genotypic-phenotypic database for human disease variation" (PDF). Database. 2019: 1-11. January 18, 2019 ... Color Data, a database containing aggregated genetic and clinical information from 50,000 individuals who took a Color test, ... It is the largest public database of its kind. As a part of the MAGENTA Study, which aims to improve availability of genetic ... Genetic counseling with board-certified genetic counselors is available for free to all individuals who use Color. Color's FDA ...
A Flowering Plant Model for Evolution and Development Antirrhinum majus genetic and phenotypic database. ... Antirrhinum is a genus that has been used from the earliest genetic studies of Gregor Mendel and Charles Darwin and was used as ... The USDA Plants Database recognises only two species: A. majus (the garden snapdragon), the only species naturalised in North ... it has become a model organism for the investigation of the genetic basis of plant development, particularly floral development ...
PhenomicDB, a database combining phenotypic and genetic data from several species Phenotype microarray Human Phenotype Ontology ... that can be produced by a given organism over the course of development and in response to genetic mutation and environmental ...
Genomic and Medical Data
... is a federated network of databases whose goal is to find genetic causes of rare diseases by matching similar phenotypic and ... These genetic variants can guide medical decisions. Genomic data alone is not very useful, but needs to be examined in the ... More and more people are getting their DNA sequenced, but the use of genetic data to inform medical decisions is lagging. More ... Beacon Project: Beacon Project is an open web service that tests the willingness of international sites to share genetic data. ...
Quantitative trait locus
The number of QTLs which explain variation in the phenotypic trait indicates the genetic architecture of a trait. It may ... The DNA sequence of any genes in this region can then be compared to a database of DNA for genes whose function is already ... Many disorders with genetic components are polygenic, including autism, cancer, diabetes and numerous others. Most phenotypic ... While schizophrenia is widely believed to be multifactorially genetic by biopsychiatrists, no characteristic genetic markers ...
based on a collection of 23 strains with the general traits of E. cloacae and the common phenotypic difference of being Voges- ... This diversity of habitats is mirrored by the genetic variety of the nomenspecies E. cloacae. E. cloacae is also an ... providing a database for their natural susceptibility. Kim DM, Jang SJ, Neupane GP et al. Enterobacter nimipressuralis as a ... Guideline for phenotypic screening and confirmation of carbapenemases in Enterobacteriaceae. International Journal of ...
To delineate the phenotypic and mutational spectrum and the genetic variability of DNAJC3, 8,603 exomes were further analyzed, ... Further screening of a diabetes database with 226,194 individuals yielded eight phenotypically similar individuals and one ... Diabetes mellitus and neurodegeneration are common diseases for which shared genetic factors are still only partly known. It ...
Combined DNA Index System
... new advancements in the understanding of genetic markers and ancestry have indicated that the CODIS loci may contain phenotypic ... For this reason, a number of profiles that are present in state level databases are not in the national database and are not ... and analysis of information contained within their database. However, for privacy reasons, the CODIS database does not contain ... The CODIS database contains several different indexes for the storage of DNA profile information. For assistance in criminal ...
According to Flora of North America, "[m]uch genetic and phenotypic variation is encountered within the complex; a thorough ... The USDA PLANTS Database, in addition, records a presence in British Columbia. However, Flora of North America states that it ... Because it is considered a synonym and not a variety of the species in most databases, United States distribution data cannot ... Transcription and some images from original in online database. Analyzed by Eleanor Swanson and John Beierle, 1976). Fuchs, L ...
"Towards systems genetic analyses in barley: Integration of phenotypic, expression and genotype data into GeneNetwork". BMC ... The database can be browsed and searched at the main search page. An on-line tutorial is available. Users can also download the ... The current version of GeneNetwork uses the same database as its predecessor, GN1, but has much more modular and maintainable ... The original source code from 2010 along with a compact database are available on SourceForge. While GN1 is was actively ...
Its goal is to act as a single database that contains all identified genetic variation, which can be used to investigate a wide ... In addition, dbSNP guides applied research in pharmacogenomics and the association of genetic variation with phenotypic traits ... The Single Nucleotide Polymorphism Database (dbSNP) is a free public archive for genetic variation within and across different ... 2001). "dbSNP: the NCBI database of genetic variation". Nucleic Acids Res. 29 (1): 308-311. doi:10.1093/nar/29.1.308. PMC 29783 ...
Generic Model Organism Database
... non-sequence maps genetic - genetic and phenotypic data expression - gene expression natural diversity - population data The ... 2007). "BeetleBase: the model organism database for Tribolium castaneum". Nucleic Acids Res. 35 (Database issue): D476-9. doi: ... 2006). "dictyBase, the model organism database for Dictyostelium discoideum". Nucleic Acids Res. 34 (Database issue): D423-7. ... The following organism databases are contributing to and/or adopting GMOD components for model organism databases. Bioperl, ...
... which takes into account both phenotypic and genetic differences. However, a quicker diagnostic ad hoc threshold to ... 37 (Database issue): D141-D145. doi:10.1093/nar/gkn879. PMC 2686447. PMID 19004872.. ... List of Prokaryotic names with Standing in Nomenclature (LPSN) is an online database which currently contains over two thousand ... but due to genetic differences cause different medical conditions in the case of the pathogenic strains. Escherichia coli ...
Rat Genome Database
In recent years, there has been a rapid increase in rat genetic and genomic data. In addition to this, the Rat Genome Database ... 2015). "The Rat Genome Database 2015: genomic, phenotypic and environmental variations and disease". Nucleic Acids Res. 43 ( ... 2005). "The Rat Genome Database (RGD): developments towards a phenome database". Nucleic Acids Res. 33 (Database issue): D485- ... 2011). "The Rat Genome Database pathway portal". Database (Oxford). 2011: bar010. doi:10.1093/database/bar010. PMC 3072770. ...
Quantitative trait locus
Many disorders with genetic components are polygenic, including autism, cancer, diabetes and numerous others. Most phenotypic ... The DNA sequence of any genes in this region can then be compared to a database of DNA for genes whose function is already ... The number of QTLs which explain variation in the phenotypic trait indicates the genetic architecture of a trait. It may ... then there is a strong chance that the disease is genetic and that the patient will also be a genetic carrier ...
This makes it possible to create pedigrees connecting the genetic and phenotypic data of any group of people in an anonymized ... Lee Silver, "Biology reborn: a genetic science breakthrough," Newsweek, 9 October 2007 This database is overwhelmingly complete ... the Act on Health Sector Database authorizing the creation of such a database and its licensing for commercial use was passed ... However the genetic links to CAD risk provided a new view of how cholesterol is linked to heart disease. They reported that ...
Bhatt, Arpan; Liehr, Thomas; Bakshi, Sonal R. (2013). "Phenotypic spectrum in uniparental disomy: Low incidence or lack of ... Duncan, Malcolm (1 September 2020). "Chromosome 14 uniparental disomy syndrome information Diseases Database". www. ... "Uniparental disomy as a mechanism for human genetic disease". American Journal of Human Genetics. 42 (2): 217-226. PMC 1715272 ...
Spinocerebellar ataxia type 1
Genetic testing can be administered at various stages of disease progression. When genetic testing is administered after the ... The Cochrane Database of Systematic Reviews (11): CD010169. doi:10.1002/14651858.cd010169.pub2. PMID 26564018. Goldfarb LG, ... "Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1". Annals of Neurology. 39 (4): 500-6. doi: ... before initiating diagnostic genetic testing. Because no preventative or curative treatments are known for SCAs, genetic ...
... efforts aim at understanding how genetic factors interact with other non-genetic and epigenetic factors to influence phenotypic ... and a large genetic and epigenetic database for different blood cell types in the Blueprint project. The National Institute for ... Results are expected to contribute to understanding of how individual genetic profiles affect disease risk and treatment in the ... She has led many large-scale discovery efforts including more than 1,000 novel genetic variants associated with cardio- ...
Multiple databases have been built, for example TargetScan, using miRNA seed matching. In vitro assays assist in determining ... and genetic links. Phase 1 and 2 trials currently test miRNA mimics (to express genes) and miRNA (to repress genes) in patients ... the phenotypic affects of miRNAs, but due to the complex nature of gene regulation not all identified miRNAs have the expected ... Sharova LV, Sharov AA, Nedorezov T, Piao Y, Shaik N, Ko MS (February 2009). "Database for mRNA half-life of 19 977 genes ...
Phenotypic analyses fatty acid analyses Growth conditions (Agar plate, Biolog multiwell plates) Genetic analyses DNA-DNA ... "The Ribosomal Database Project: Improved alignments and new tools for rRNA analysis". Nucleic Acids Research. 37 (Database ... which takes into account both phenotypic and genetic differences. However, a quicker diagnostic ad hoc threshold to separate ... Olsen, G.; Larsen, N.; Woese, C. (1991). "The ribosomal RNA database project". Nucleic Acids Research. 19 Suppl: 2017-2021. doi ...
Drosophila Genetic Reference Panel
The preliminary sequence data can be obtained from a public database hosted by Baylor College of Medicine in the Texas Medical ... Researchers have also uncovered a genotype by diet interaction that drives phenotypic variation. Recently published data ... Drosophila Genetic Reference Panel (DGRP) is a suite of Drosophila melanogaster lines derived from an out-crossed population in ... which will be stored in a publicly available database. This allows for analyses to be performed across studies without having ...
Gene Disease Database
... the genetic Association Database (GAD) or the Disease genetic Association Database (DisGeNET). Each of these databases focuses ... 2015). "The Rat Genome Database 2015: genomic, phenotypic and environmental variations and disease". Nucleic Acids Research. 43 ... Essentially, there are four types of databases: curated databases, predictive databases, literature databases and integrative ... The Genetic Association Database is an archive of human genetic association studies of complex diseases. GAD is primarily ...
Main article: Genetic pollution. Native species can be threatened with extinction through the process of genetic pollution ... Intraspecific phenotypic plasticity, pre-adaptation and post-introduction evolution are all major factors in adaptive evolution ... "Biological invasions: A field synopsis, systematic review, and database of the literature". Ecology and Evolution. 3 (1): 182- ... Genetic Pollution from Farm Forestry using eucalypt species and hybrids; A report for the RIRDC/L&WA/FWPRDC]; Joint Venture ...
Online Mendelian Inheritance in Man
MARRVEL, a website that uses OMIM as one of the six human genetic databases and seven model organism databases to integrate ... A percent sign (%) before an entry number indicates that the entry describes a confirmed Mendelian phenotype or phenotypic ... Comparative Toxicogenomics Database, a database that integrates chemicals and genes with human diseases, including OMIM data. ... Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, ...
"The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415-8. doi:10.1093/nar/gkj139. PMC 1347501 . PMID ... Lu Y, Dollé ME, Imholz S, van 't Slot R, Verschuren WM, Wijmenga C, Feskens EJ, Boer JM (Dec 2008). "Multiple genetic variants ... Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Additional screens ...
Amyotrophic lateral sclerosis
The cause is not known in 90% to 95% of cases, but is believed to involve both genetic and environmental factors. The ... Chiò A, Calvo A, Moglia C, Mazzini L, Mora G (July 2011). "Phenotypic heterogeneity of amyotrophic lateral sclerosis: a ... The Cochrane Database of Systematic Reviews. 3 (3): CD001447. doi:10.1002/14651858.CD001447.pub3. PMID 22419278.. ... ALS and frontotemporal dementia (FTD) are now considered to be part of a common disease spectrum (FTD-ALS) because of genetic, ...
Harding, TM; Hefner-Gravink, A; Thumm, M; Klionsky, DJ (26 July 1996). "Genetic and phenotypic overlap between autophagy and ... "Autophagy Database. 290. Archived from the original on 2012-08-01. Retrieved 2012-10-08. ... There are several genetic mutations implicated in the disease, including loss of function PINK1  and Parkin. Loss of ... The first autophagy genes were identified by genetic screens conducted in the budding yeast Saccharomyces cerevisiae. ...
"The Cochrane Database of Systematic Reviews. 5: CD012855. doi:10.1002/14651858.CD012855.pub2. ISSN 1469-493X. PMC 6526465. PMID ... Genetic, environmental, and psychological factors. Risk factors. Family history, major life changes, certain medications, ... phenotypic variations of corticotropin releasing hormone (CRH) and arginine vasopressin (AVP), and down-regulation of adrenal ... There is some evidence of a genetic basis for all types of depression, including dysthymia. A study using identical and ...
Strok bahasa Indonesia, ensiklopedia bebas
"New approach to stroke subtyping: the A-S-C-O (phenotypic) classification of stroke". Department of Neurology and Stroke Center ... The Cochrane database of systematic reviews. 11: CD004954. PMID 25387992.. ... became significant in the multivariate model before inclusion of genetic variants, and was therefore included in the final ... "Systematic Review of Methods and Results of Studies of the Genetic Epidemiology of Ischemic Stroke". Stroke. 35: 212-227 ...
True HL, Lindquist SL (September 2000). "A yeast prion provides a mechanism for genetic variation and phenotypic diversity". ... sRNATarBase 2.0 A comprehensive database of bacterial SRNA targets verified by experiments ... Lamb MJ, Jablonka E (2005). Evolution in four dimensions: genetic, epigenetic, behavioral, and symbolic variation in the ... These are normal genetic diseases caused by gene deletions or inactivation of the genes, but are unusually common because ...
Evolution of mammals
"Paleobiology Database. Retrieved January 30, 2012.. *^ "Morganucodontids & Docodonts - Palaeos". Archived from the original on ... Genetic evidence has determined that echidnas diverged from the platypus lineage as recently as 19-48M, when they made their ...
Tsukii, Y. (1996). Protist Information Server (database of protist images). Laboratory of Biology, Hosei University.. ... it is unclear how frequently sexual reproduction causes genetic exchange between different strains of Plasmodium in nature and ... phenotypic plasticity, multiple life-cycle stages). ... "Demonstration of genetic exchange during cyclical development ...
"The Cochrane Database of Systematic Reviews. 9 (9): CD001090. doi:10.1002/14651858.CD001090.pub2. PMC 6516813. PMID 24043371.. ... It was discovered in 1965 that a strain of C3H/HeJ mice were immune to the endotoxin-induced shock. The genetic locus for ... are all capable of such a high level of phenotypic plasticity. Evidently, not all cases of sepsis arise through such adaptive ... "The Cochrane Database of Systematic Reviews. 9 (9): CD006616. doi:10.1002/14651858.CD006616.pub2. PMC 6517277. PMID 22972094.. ...
"Database. 2014: bau103. doi:10.1093/database/bau103. PMC 4224276. PMID 25380780.. *^ Pillai RS, Bhattacharyya SN, Filipowicz W ... RNAi could potentially be used to treat viruses, bacterial diseases, parasites, maladaptive genetic mutations,[ ... "Allele-specific RNAi mitigates phenotypic progression in a transgenic model of Alzheimer's disease". Molecular Therapy. 17 (9 ... "Database. 2014. doi:10.1093/database/bau103. PMC 4224276. PMID 25380780.. *^ Crowe S (2003). "Suppression of chemokine receptor ...
Spesies ceroboh Bahasa Melayu, ensiklopedia bebas
Global Invasive Species Database. *Aliens Among Us: A round table with James H. Brown and Dov F. Sax, Daniel Simberloff, and ... Genetic Pollution from Farm Forestry using eucalypt species and hybrids; A report for the RIRDC/L&WA/FWPRDC; Joint Venture ... phenotypic plasticity) yang tinggi dan allelopathi merupakan keupayaan yang mungkin membantu tumbuhan ceroboh bagi segar dan ... Invasive Species of Oregon - Statesman Journal Stories, videos, photos, and a comprehensive database of invasive species found ...
DeathBase: a database of proteins involved in cell death, curated by experts ... Due to the excess of genetic material the cell fails to replicate and dies by apoptosis. ... "Aberrant control of NF-κB in cancer permits transcriptional and phenotypic plasticity, to curtail dependence on host tissue: ...
Phenotypic screens have also provided new chemical starting points in drug discovery. A variety of models have been ... "Genetic Engineering & Biotechnology News. TechNote. 29 (9). Mary Ann Liebert. pp. 34-35. ISSN 1935-472X. OCLC 77706455. ... Databases of mass spectras for known compounds are available and can be used to assign a structure to an unknown mass spectrum ... This approach is known as classical pharmacology, forward pharmacology, or phenotypic drug discovery. ...
As of 2016, he has over 60 credits in the Internet Movie Database where he appeared as himself. ... that the phenotypic effects of a gene are not necessarily limited to an organism's body, but can stretch far into the ... analysis in his inclusive fitness theory to show how hereditary altruistic traits can evolve if there is sufficient genetic ... he introduced into evolutionary biology the influential concept that the phenotypic effects of a gene are not necessarily ...
Development of multidrug resistance by P. aeruginosa isolates requires several different genetic events that include ... Some recent studies have shown phenotypic resistance associated to biofilm formation or to the emergence of small-colony- ... "Genetic Diversity and Spoilage Potentials among Pseudomonas spp. Isolated from Fluid Milk Products and Dairy Processing Plants ...
... is the variance in genetic and phenotypic characteristics of plants used in agriculture. Over the past 50 years ... In: ICTVdB - The Universal Virus Database", version 4. Büchen-Osmond, C. (Ed), Columbia University, New York, USA 2006 ... The wise use of crop genetic diversity in plant breeding and genetic modification can also contribute significantly to ... Department of Agriculture's National Center for Genetic Resources Preservation, India's National Bureau of Animal Genetic ...
Source: USDA Nutrient Database. Morchella, the true morels, is a genus of edible sac fungi closely related to anatomically ... Early phylogenetic analyses supported the hypothesis that the genus comprises only a few species with considerable phenotypic ... or genetic groups, consisting of the "white morels" (Morchella rufobrunnea and Morchella anatolica), the "yellow morels" ( ...
A gene knockout (abbreviation: KO) is a genetic technique in which one of an organism's genes is made inoperative ("knocked out ... "High frequency of phenotypic deviations in Physcomitrella patens plants transformed with a gene-disruption library". BMC Plant ... Frontiers in Bioscience Gene Knockout Database (available on archive only). *International Knockout Mouse Consortium ... Griffiths AJ, Miller JH, Suzuki DT, Lewontin WC, Gelbart WM (2000). An Introduction to Genetic Analysis (7th ed.). New York: W ...
"WAHID Interface - OIE World Animal Health Information Database". Oie.int. Retrieved 2011-01-15.. ... emergence of a new genetic Group and evidence for a novel recombinant virus". Infect Genet Evol. 31 (5): 413-21. doi:10.1007/ ... "Morphologic and phenotypic characteristics of myocarditis in two pigs infected by foot-and mouth disease virus strains of ...
"The National DNA Database" (PDF). Retrieved 2010-09-20.. *^ "House of Lords Select Committee on Science and Technology Written ... Genetic linkage analysis. During the 1990s and the first several years of this millenium, microsatellites were the ... "Simple sequence repeats provide a substrate for phenotypic variation in the Neurospora crassa circadian clock". PLoS ONE. 2 (8 ... The British data base for microsatellite loci identification was originally based on the British SGM+ system using 10 ...
Markel, Scott; León, Darryl (2003). Sequence Analysis in a Nutshell: a guide to common tools and databases. Sebastopol, ... A genetic assessment". Science. 311 (5757): 73-77. :2006Sci...311...73J. doi:10.1126/science.1122277. 16400146.. Mungon ose ... "Tiger distribution, phenotypic variation and conservation issues". përmbledhur nga Seidensticker, J.; Christie, S.; Jackson, P ...
Genetics and the Book of Mormon
1 Overview of the genetic challenges to the Book of Mormon story *1.1 The genetic challenge ... Second, Paleoindian skeletons like Buhl Woman with phenotypic traits atypical of modern-day indigenous Americans can be ... of Y chromosome SNP haplogroups in the United States and forensic implications for constructing Y chromosome STR databases" ( ... In fact, he conceded, 'current genetic evidence suggests that Native Americans have a genetic history representative of Asia ...
y: yellow- The yellow gene is a genetic mutation known as Dmel\y within the widely used data base called flybase. This mutation ... Biotic and abiotic factors experienced during development will affect developmental resource allocation leading to phenotypic ... History of use in genetic analysis. Alfred Sturtevant's Drosophila melanogaster genetic linkage map: This was the first ... Genetic markers. Genetic markers are commonly used in Drosophila research, for example within balancer chromosomes or P- ...
氣喘 - 維基百科，自由的百科全書
Ionisers for chronic asthma.. Cochrane database of systematic reviews (Online). 2012 Sep 12, 9: CD002986. PMID 22972060.. 引文使用過 ... Bush A, Menzies-Gow A. Phenotypic differences between pediatric and adult asthma. Proc Am Thorac Soc. December 2009, 6 (8): 712 ... Genetic association）實驗中，就超過100個基因與氣喘相關；有更多亟待發現。 ... Cochrane Database Syst Rev. 2008, (2): CD001187. PMID 18425868. doi:10.1002
"Genetic Science Learning Center, Utah.org. Retrieved 26 August 2018.. *^ Singh, A. (1985). "Okapis and litigons in London and ... Markel, S.; León, D. (2003). Sequence Analysis in a Nutshell: a guide to common tools and databases (PDF). Sebastopol, ... "Tiger distribution, phenotypic variation and conservation issues". In Seidensticker, J.; Christie, S.; Jackson, P. (eds.). ... Results of genetic analysis indicate that about 2.88 million years ago, the tiger and the snow leopard lineages diverged from ...
EBI-Led Consortium to Study How to Turn EU Bio-Databases Into Bioinformatic Network | GenomeWeb
Gene42 Standardizes Phenotypic Data to Improve Variant Classification, Rare Disease Dx. Premium ... Highly Efficient Genome Editing Method Reveals Fitness of Genetic Variants in Yeast. ... EBI-Led Consortium to Study How to Turn EU Bio-Databases Into Bioinformatic Network. Jun 06, 2008 ... Home » EBI-Led Consortium to Study How to Turn EU Bio-Databases Into Bioinformatic Network ...
John Bohannon - Wikipedia
Genetic differentiation and phenotypic plasticity in life-history traits between native and introduced populations of invasive...
Genetically based phenotypic differentiation between native and invasive populations of exotic plants has been increasingly ... Online Database of the North European and Baltic Network on Invasive Alien Species. NOBANIS www.nobanis.org ... Genetic differentiation and phenotypic plasticity in life-history traits between native and introduced populations of invasive ... Acer negundo Acer platanoides Tree invasion Genetic differentiation Phenotypic plasticity Reciprocal common gardens ...
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine | npj Genomic...
Children with genetic disorders receive a diagnosis more often with full genome sequencing than with the current standard of ... WGS identified genetic variants meeting clinical diagnostic criteria in 34% of cases, representing a fourfold increase in ... We found four subjects with mutations in at least two genes associated with distinct genetic disorders, including two cases ... Clinical implementation of WGS as a primary test will provide a higher diagnostic yield than conventional genetic testing and ...
Adaptive Divergence in Experimental Populations of Pseudomonas fluorescens. I. Genetic and Phenotypic Bases of Wrinkly Spreader...
A 20-kb nucleotide sequence is available from the GenBank database under accession no. AY074776. ... I. Genetic and Phenotypic Bases of Wrinkly Spreader Fitness. Andrew J. Spiers, Sophie G. Kahn, John Bohannon, Michael Travisano ... I. Genetic and Phenotypic Bases of Wrinkly Spreader Fitness Message Subject (Your Name) has forwarded a page to you from ... I. Genetic and Phenotypic Bases of Wrinkly Spreader Fitness. Andrew J. Spiers, Sophie G. Kahn, John Bohannon, Michael Travisano ...
CURETINA: Personalised medicine for hereditary retinal distrophies | University of Tübingen
Integration of phenotypic and genetic data into the clinical database CentraXX. *Data Mining to extract parameters for risk ... Identification of 5 genetic homogeneous patient cohorts for detailed, prospective analysis of the disease progression; advanced ... With the help of molecular and multi-modal diagnostic tools inclusively modern imaging technologies the phenotypic and ... phenotypic description of these patients by bi-annual examination. * ...
MGI-Mouse Genome Informatics Publications
The Mouse Genome Database (MGD). A comprehensive public resource of genetic, phenotypic and genomic data. Nucleic Acids Res 25 ... Genotype to Phenotype: The Mouse Genome Database and the Gene Expression Database. In: Bioinformatics: Databases and Systems. ... Blake JA, Richardson JE, Davisson MT, Eppig JT, and the Mouse Genome Database Group. 1999. The Mouse Genome Database (MGD): ... Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc ...
Nail Telangiectasia - Trip Database
Find all the evidence you need on Nail Telangiectasia via the Trip Database. Helping you find trustworthy answers on Nail ... Primary lymphoedema is a genetic disorder with numerous phenotypic subgroups. The most common form is the non-syndromic Meige ... 2020 Trip Database Ltd. company number 04316414. Trip is proud to be made in the UK. ... 2002 ( ) Answered 20 April 2006 Follow us: © 2019 Trip Database Ltd. company number 04316414 ...
Phaeodactylum tricornutum - Wikipedia
"Genetic and phenotypic characterization of Phaeodactylum tricornutum (Bacillariophyceae) accessions". Journal of Phycology (43 ... The Diatom EST Database. Nucleic Acids Research 33: D344-D347. Chisti, Y (May-Jun 2007). "Biodiesel from microalgae". ... "Genetic and phenotypic characterization of Phaeodactylum tricornutum (Bacillariophyceae) accessions". Journal of Phycology. 43 ... This makes molecular genetic studies much easier. Phaeodactylum tricornutum was first described in the triradiate morphotype by ...
Haploid vegetative mycelia of Armillaria gallica show among-cell-line variation for growth and phenotypic plasticity.
Recombination, Genetic. Selection, Genetic. From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine ... Genetic Variation*. Haploidy*. Mycelium / genetics, growth & development*, physiology. Phenotype. Quantitative Trait Loci. ... grown at different water potentials revealed high levels of among-cell-line genetic variation for both growth and phenotypic ... Haploidy and the existence of ecologically relevant genetic variation within vegetative individuals are unexpected and mean ...
Phenotypic Description of the Spanish Multicentre Genetic Glaucoma Group Cohort
Therefore, the objective of this study was to describe the epidemiologic features of patients included in our database. ... Phenotypic Description of the Spanish Multicentre Genetic Glaucoma Group Cohort. Elena Milla,1,2 Maria José Gamundi,3 Susana ... E. S. Lander and N. J. Shork, "Genetic dissection of complex traits," Science, vol. 265, pp. 2037-2048, 1994. View at Publisher ... The aim of the study was to make a phenotypic description of the Spanish multicentre glaucoma group cohort of patients. Design ...
Darwin's illness revisited | The BMJ
3. Finsterer, J., Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation. Acta ... Darwin Correspondence Project Database http://www.darwinproject.ac.uk/entry-5639/ (letter no. 5639; accessed 9 December 2010). ... The genetic evidence is hardly conclusive; the clinical evidence is not supportive. ...
Associating Multivariate Quantitative Phenotypes with Genetic Variants in Family Samples with a Novel Kernel Machine Regression...
2015 The Rat Genome Database 2015: genomic, phenotypic and environmental variations and disease. Nucleic Acids Res. 43: D743- ... COL6A6 includes 7 rare variants of 31 genetic variants, and RBM16 includes 2 rare variants of 29 genetic variants. The rare ... q genotype matrix for q genetic markers in the region of interest, γ is a q × 1 vector for the random effects of genetic ... 2011 Genetic heritability and shared environmental factors among twin pairs with autism. Arch. Gen. Psychiatry 68: 1095-1102. ...
Toxins | Free Full-Text | A Public Platform for the Verification of the Phenotypic Effect of Candidate Genes for Resistance to...
Resources include a database of genetic and protein sequences associated with the reduction in aflatoxin contamination from ... Resources include a database of genetic and protein sequences associated with the reduction in aflatoxin contamination from ... A Public Platform for the Verification of the Phenotypic Effect of Candidate Genes for Resistance to Aflatoxin Accumulation and ... "A Public Platform for the Verification of the Phenotypic Effect of Candidate Genes for Resistance to Aflatoxin Accumulation and ...
Difference between revisions of "June 2007 Progress Report" - GMOD
Active chado databases at FlyBase: Currently in chado. *D. melanogaster genome, annotations, genetic & phenotypic data. ... Modifications of chado schema to improve support of genetic/phenotypic data. *Continued work on integration of genetic/ ... External databases. The editors now contain a command for creating or editing the descriptions of external databases for use in ... DroSpeGe: rapid access database for new Drosophila species genomes. Nucleic Acids Research, Vol. 35, Database issue D480-D485 ...
Frontiers | Effect of P2X4 and P2X7 receptor antagonism on the pressure diuresis relationship in rats | Physiology
2002). "Exploring genetic, genomic and phenotypic data at the rat genome database." Curr. Protoc. Bioinformatics 40, 1.14.1- ... At a genetic level, we identified increased renal expression of P2X4 and P2X7 receptors, which may contribute to impaired ... 1999). Genetic mapping of modifier loci affecting malignant hypertension in TGR(mRen2) rats. Kidney Int. 56, 414-420. doi: ... Genetic background influences susceptibility to renal injury in several rat models (Churchill et al., 1997; Schulz and Kreutz, ...
NIMH » NAMHC Genomics Workgroup: Research Recommendations Summary
Capture genetic and phenotypic variation across diverse human populations. Studies of diverse populations can identify novel ... Develop and share research resources. Databases, brain, DNA and cell repostiories, bioinformatics resources and statistical ... Explore all types of genetic variation for disease association. To understand the full spectrum of genetic risk, it is critical ... Expand genetic association efforts beyond the DSM. Heritability is shared across psychiatric disorders, as well as across ...
Autism Research Database - Strategic Plan Objective Project Details | IACC
Due to genetic and phenotypic heterogeneity, the etiology of autism spectrum disorder (ASD) is not well understood. ... Genetic factors or regions associated with these endophenotypes represent ripe avenues for future research into factors that ... as these children are likely to share many of the genetic risk factors that contribute to ASD in their siblings, despite ... and psychopathology of ASD by indicating components of complex social behaviors that lie closer to specific genetic factors ...
Chiara Sabatti | Stanford Medicine Profiles
Analyses of phenotypic and genetic covariation identified substantial correlations among the traits, at least some of which ... It involves a search of rich phenotype databases for measures correlated with genetic variation, as identified in genome-wide ... Phenotype mining is a novel approach for elucidating the genetic basis of complex phenotypic variation. ... Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health ...
Genetic Variation Program - National Human Genome Research Institute (NHGRI)
Overview of the National Human Genome Research Institutes Genetic Variation program, including a list of reports and funding ... The program also works with other programs to support experimental and analysis development studies and databases relating ... Clinical and Phenotypic Information on Variants: ClinVar. Other:. *Clinical and Phenotypic Information on Variants: Clinical ... The Genetic Variation Program supports large-scale studies of human genetic variation as part of projects such as the ...
Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and...
Inherited peripheral neuropathies mutation database at http://molgen-www.uia.ac.be/CMTMutations/. ... Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and ... Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and ... Molecular genetic analysis. Involvement of MPZ (1q22),12PMP22 (17p11.2),13EGR2 (10q21-q22),14 and NDRG1 (8q24)15 was excluded ...
Phene - Wikipedia
"Phene" is used as to refer to relevant phenotypic traits in the OMIA (Online Mendelian Inheritance in Animals) database. One of ... It is a valuable concept in the genomic era where "phenes" or "traits" (symptoms) are used to distinguish groups with genetic ... Phenotype Phenotypic trait Online Mendelian Inheritance in Man (a database of human phenes) Allan, Charlotte L.; Cardno, AG; ... 34 (Database issue): D599-D601. doi:10.1093/nar/gkj152. PMC 1347514 . PMID 16381939 Porter, Ian H (June 1973). "From gene to ...
Cancer systems biology - Wikipedia
"The DDBJ Japanese Genotype-phenotype Archive for genetic and phenotypic human data". Nucleic Acids Research. 43 (Database issue ... "KEGG PATHWAY Database". www.genome.jp. "Home - Reactome Pathway Database". reactome.org. Carro, MS; Lim, WK; Alvarez, MJ; Bollo ... "Human Metabolome Database". "Gene Regulation". www.gene-regulation.com. "JASPAR 2018: An open-access database of transcription ... 42 (Database issue): D926-32. doi:10.1093/nar/gkt1270. PMC 3964963. PMID 24304889. "GPMDB Proteome Database". "PRIDE Archive". ...
Georges M[au] - PubMed - NCBI
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants. ... Reverse genetic screen for loss-of-function mutations uncovers a frameshifting deletion in the melanophilin gene accountable ... Defining the genetic control of human blood plasma N-glycome using genome-wide association study. ... Sex-specific genetic diversity is shaped by cultural factors in Inner Asian human populations. ...
Symptoms and esophageal motility based on phenotypic findings of scleroderma.
Next Document: Worldwide genetic relationships of pigs as inferred from X chromosome SNPs.. ... From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine ... This study highlights subgroups of patients with scleroderma esophagus according to phenotypic findings of dermatologic changes ...
Frontiers | Genome-Wide Association Study for Susceptibility to and Recoverability From Mastitis in Danish Holstein Cows |...
The findings in the current study are, therefore, a starting point for further investigations in identifying causal genetic ... and investigate the genetic background not only for susceptibility to - but also for recoverability from mastitis. Online ... and investigate the genetic background not only for susceptibility to - but also for recoverability from mastitis. Online ... adding recovery information into the analysis for genetic evaluation of mastitis is of great interest from economical and ...
Bovine tuberculosis: the genetic basis of host susceptibility | Proceedings of the Royal Society of London B: Biological...
... health information can then be linked to pedigree and other animal databases and lead to the estimation of direct genetic ... which is the extent to which phenotypic differences between animals are due to additive genetic effects (Falconer & Mackay 1996 ... 2. Host genetic variation. Studies on humans and mice have indicated evidence for host genetic variation in tuberculosis ... 2009 Quantifying and correcting for the winners curse in genetic association studies. Genetic Epidemiol. 33, 453-462. (doi: ...
The Zebrafish Model Organism Database: new support for human disease models, mutation details, gene expression phenotypes and...
... genetic, genomic, phenotypic and developmental data. ZFIN curators provide expert manual curation and integration of ... Fish records include the genotype (Green; Genotype), the genetic background (Yellow, G.B.), and the sequence targeting reagents ... The Zebrafish Model Organism Database: new support for human disease models, mutation details, gene expression phenotypes and ... The Zebrafish Model Organism Database: new support for human disease models, mutation details, gene expression phenotypes and ...
Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort - Full Text View - ClinicalTrials.gov
Plasma are also collected for all patients and stored in our clinical research biological center in Angers, including genetic ( ... All investigations are included in a yearly follow-up for these patients and collected in a database. ... Phenotypic Expressions in a French Pseudoxanthoma-Elasticum Cohort. The safety and scientific validity of this study is the ... The study of phenotypic expression of the diseases is focused on cutaneous, opthalmologic and vascular tissues. ...
The genetic base and phenotypic manifestations of Colorado potato beetle resistance to organophosphorus insecticides, Russian...
"The genetic base and phenotypic manifestations of Colorado potato beetle resistance to organophosphorus insecticides, Russian ... Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly ... The genetic base and phenotypic manifestations of Colorado potato beetle resistance to... Benkovskaya, G.; Udalov, M.; ... The genetic base and phenotypic manifestations of Colorado potato beetle resistance to organophosphorus insecticides. ...
Genotypic and phenotypicVariationCharacterizationVariabilityPlasticityGenesGenomic and phenotypicCauses of phenotypicTraitsPhenotypePhenotypesDataGeneticallyPopulationsMutationsCharacteristicsLociDiversityDifferencesGeneTraitPathwaysHeterogeneityStrainsMolecularSubgroupsModel organism databaseMarkersAnalysesDevelopmentalDisordersConsortiumDistributionsSusceptibilityCongenitalSequencesFindingsLegumeGeneticsSpectrumDiseasesIdentifyingCorrelationAccessionsChromosomeRare genetic variantsHumansGenomePlantDiagnosticCohortIdentifyHuman geneticStrong geneticClassificationSynthetic Genetic ArrayAnalysisStudies
Genotypic and phenotypic3
- tritici in Georgia provides a hotspot for genotypic and phenotypic diversity. (usda.gov)
- This designation should be distinct from those of the genotype and phenotype, and genotypic and phenotypic symbols should not be included. (asm.org)
- Objective: To systematically review genotypic and phenotypic correlates of published cases of adult-onset PEO. (iospress.com)
- Haploid vegetative mycelia of Armillaria gallica show among-cell-line variation for growth and phenotypic plasticity. (biomedsearch.com)
- In all four sets of cell lines in situ DAPI-DNA measurements showed cells are haploid and quantitative-trait analyses of cell lines grown at different water potentials revealed high levels of among-cell-line genetic variation for both growth and phenotypic plasticity. (biomedsearch.com)
- Haploidy and the existence of ecologically relevant genetic variation within vegetative individuals are unexpected and mean that a process similar to evolutionary adaptation could take place within the soma of a genetic individual. (biomedsearch.com)
- Strict standards of statistical rigor are necessary to interpret both discovery of common or rare genetic variation in clinical studies and to justify biological follow-up experiments to understand the functional roles of gene variants. (nih.gov)
- Explore all types of genetic variation for disease association. (nih.gov)
- To understand the full spectrum of genetic risk, it is critical to study both common and rare gene variants, single base pair changes, as well as larger and more complex forms of variation. (nih.gov)
- Capture genetic and phenotypic variation across diverse human populations. (nih.gov)
- Differences in the sequence of DNA among individuals are called genetic variation. (genome.gov)
- Genetic variation explains some of the differences among people, such as eye color and blood group, as well as whether a person has a higher or lower risk for getting particular diseases. (genome.gov)
- The program also seeks to relate there genetic variants to functional variation and phenotype. (genome.gov)
- The Genetic Variation Program supports large-scale studies of human genetic variation as part of projects such as the International HapMap Project and the 1000 Genomes Project. (genome.gov)
- The program supports many studies developing data analysis methods for how to relate variation to traits, diseases, and responses to drugs and environmental factors, such as association and admixture approaches, and how to use patterns of variation to infer demographic history, selection, and other population genetic processes. (genome.gov)
- The program also works with other programs to support experimental and analysis development studies and databases relating variation to differences in gene function and regulation and to clinical effects. (genome.gov)
- Discovering and typing single nucleotide polymorphisms (SNPs), indels, and other forms of genetic variation on a large scale across the genome. (genome.gov)
- Developing high-resolution maps of genetic variation and haplotypes. (genome.gov)
- Developing methods for the large-scale experimental and statistical analysis of SNPs, other forms of genetic variation, haplotypes, and complex traits. (genome.gov)
- Developing statistical methods to relate genetic variation to phenotypes, disease, and function. (genome.gov)
- An integrated map of genetic variation from 1,092 human genomes. (genome.gov)
- yet, it is biologically untenable that genetic variation does not play a role. (royalsocietypublishing.org)
- We then address some of the major issues surrounding the design of future studies tasked with finding the exact causative genetic variation underpinning the TB susceptibility phenotype. (royalsocietypublishing.org)
- One approach could be to exploit the host genetic variation in response to TB, as seen in studies conducted in red deer ( Griffin & Mackintosh 2000 ) where results of experimental challenge with M. bovis evidenced a wide spectrum of responses and a high heritability of resistance to TB (0.48 ± 0.096). (royalsocietypublishing.org)
- This result indicates that approximately 48 per cent of the variation seen in response to infection with M. bovis is due to host genetic variation. (royalsocietypublishing.org)
- In this review, we discuss the wealth of data that now indicates the existence of a genetic basis for resistance to BTB in cattle, explore the strategies, new technologies and resources available that could enable the discovery of the exact genetic variation underpinning this phenotype and discuss the feasibility of exploiting such findings in breeding for resistance. (royalsocietypublishing.org)
- Changes in the environment are expected to induce changes in the quantitative genetic variation, which influences the ability of a population to adapt to environmental change. (ovid.com)
- As expected, the genetic variation decreased after fluctuating selection. (ovid.com)
- Interestingly, we found greater variation for phenotypic plasticity after selection, suggesting that the potential for plasticity to evolve is facilitated after exposure to environmental fluctuations. (ovid.com)
- OMIM is a continuously updated catalog of human genes and genetic disorders and traits, with particular focus on the molecular relationship between genetic variation and phenotypic expression. (r-project.org)
- UniProt focuses on amino acid altering variants imported from Ensembl Variation databases. (r-project.org)
- The core mission of the European Genome-phenome Archive (EGA), European Variation Archive (EVA), and European Nucleotide Archive (ENA) infrastructure team is to provide the basic infrastructure to enable global public sharing of genetic data. (ebi.ac.uk)
- The EVA is an open-access database of all types of genetic variation data from all species. (ebi.ac.uk)
- We offer a range of software development and data analysis projects such as data validation tools, federated analysis, data interoperability, backend development, web development, and genetic variation analysis. (ebi.ac.uk)
- 2004 ), for instance, is a repository for maize sequence, stock, phenotype, genotypic and karyotypic variation, as well as chromosomal mapping data The GrainGenes database (Matthews et al . (biology-online.org)
- The Montgomery Lab aims to uncover and define how a specific class of genetic variation, namely those variants which effect the expression of genes, first impact cellular state and behavior and then ultimately play a role in defining human traits and disease. (stanford.edu)
- The database currently houses over 4 million single nucleotide variants and small insertions or deletions, and provides a strain variation dataset of unprecedented breadth. (jax.org)
- Genetic variation affecting the coding sequence of the gene in the general population is extremely rare2. (rarediseases.org)
- Impact of natural genetic variation on the transcriptome of autotetraploid Arabidopsis thaliana. (openwetware.org)
- However, heritable variation in resistance and tolerance and the genetic correlation between these two traits have rarely been characterized in wild host populations. (royalsocietypublishing.org)
- In 2009, our research group initiated a prospective multicentre study which collected blood samples from patients with familial and hereditary glaucoma throughout Spain in order to carry out genetic characterization with the aim of describing the mutational profile of glaucoma in Spain. (hindawi.com)
- Incorporate characterization data into the GRIN-Global and/or other databases. (usda.gov)
- We performed a thorough characterization of AIMT cells from mice of different genetic background, age, and hygienic status by flow cytometry and multiomics approaches, including analyses of gene expression, TCR repertoire, and microbial colonization. (jimmunol.org)
- Mice with newly identified spontaneous mutations undergo genetic, genomic and phenotypic characterization to evaluate and develop their value as resources for ongoing biomedical research. (jax.org)
- Physiological and Genetic Characterization of End-of-Day Far-Red Light Response in Maize Seedlings. (openwetware.org)
- We used DNA fingerprinting to determine genetic variability among isolates from a C. parapsilosis outbreak and from our clinical database. (cdc.gov)
- If a phenotype has changed in a colony, genetic drift is one of many potential sources of variability to investigate. (genengnews.com)
- Research has uncovered a few genetic factors that contribute to the variability of ALS/MND. (clinicaltrials.gov)
- There is high variability in disease penetrance and phenotypic expression of variants associated with HCM. (frontiersin.org)
- Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. (cdc.gov)
- Reciprocal common gardens were therefore set up in both native and introduced ranges of two exotic maple trees to assess the contribution of genetic differentiation and phenotypic plasticity to tree invasiveness. (springer.com)
- This cross-continental comparison provides evidence that both genetic differentiation and phenotypic plasticity contribute synergistically to tree invasiveness. (springer.com)
- Plant phenotypic plasticity in a changing climate. (openwetware.org)
- We found four subjects with mutations in at least two genes associated with distinct genetic disorders, including two cases harbouring a pathogenic CNV and SNV. (nature.com)
- We identify the genes that cause and contribute to the evolutionary success of WS, and we describe the phenotypic target of selection and unravel the relationship between the WS phenotype, niche specialization, and fitness. (genetics.org)
- Warburton ML, Williams WP, Hawkins L, Bridges S, Gresham C, Harper J, Ozkan S, Mylroie JE, Shan X. A Public Platform for the Verification of the Phenotypic Effect of Candidate Genes for Resistance to Aflatoxin Accumulation and Aspergillus flavus Infection in Maize. (mdpi.com)
- Jointly testing for association between genetic variants and multiple correlated phenotypes may increase the power to detect causal genes in family-based studies, but familial correlation needs to be appropriately handled to avoid an inflated type I error rate. (genetics.org)
- 2006) describe the OMIA as a "comparative biology resource" "(The) OMIA is a comprehensive resource of phenotypic information on heritable animal traits and genes in a strongly comparative context, relating traits to genes where possible. (wikipedia.org)
- Fish ZDB-FISH-150901-11301 (https://zfin.org/ZDB-FISH-150901-11301) includes a homozygous hand2 c99/c99 gene on the AB genetic background plus three morpholinos targeting the dlx3b, dlx5a and dlx4b genes. (nih.gov)
- On the genetic level, we will use a systematic two stage approach to map and clone dyslexia susceptibility genes in samples of 800 families and 2000 dyslexic cases and 2000 controls. (europa.eu)
- RiceArrayNet: a database for correlating gene expression from transcriptome profiling, and its application to the analysis of coexpressed genes in rice," Plant Physiology , vol. 151, no. 1, pp. 16-33, 2009. (hindawi.com)
- From our initial analysis of the sequence of the human genome, particularly with the much smaller than expected number of human genes, the genetic determinists seemed to have clearly suffered a setback. (edge.org)
- Deciphering the genetic basis of human behavior has been a complex and largely unsatisfying endeavor due to the limitations of the existing tools of genetic trait analysis particularly with complex traits involving multiple genes. (edge.org)
- By identifying causative mutations and associated genes that underlie rare phenotypic anomalies, we are able to further annotate the mammalian genome, assigning physiological functions to genes for which no role has previously been identified. (jax.org)
- EHR-based genomics are particularly well-suited to rapid look-up replication of putative risk genes, studies of pleiotropy (phenomewide association studies or PheWAS), investigations of genetic networks and overlap across the phenome, and pharmacogenomic research. (broadinstitute.org)
- The genetic signatures of balancing selection can be identified both by studying individual genes and by analysing genome‐wide patterns of diversity. (els.net)
- Hence, the deletion of all multidrug resistance genes except for those that are important for viability and for genetic experiments/manipulation could increase the drug sensitivity without influencing the transformation, mating, or sporulation efficiency. (intechopen.com)
- Genetic drift refers to the fact that some people leave behind more descendants (and therefore more genes) than others just by chance and not necessarily because they are healthier or better survivors. (wtkr.com)
- Despite the identification of several nuclear encoded genes causing PEO, over half of patients with clinically confirmed PEO do not have a genetic diagnosis. (iospress.com)
- New genomic technologies, such as exome, whole-genome and transcriptome sequencing, are transforming the genetic diagnosis of neuromuscular diseases and dramatically accelerating the discovery of new disease-associated genes. (iospress.com)
- The gene encoding cationic trypsinogen (PRSS1), serine protease inhibitor Kazal type 1 ( SPINK1 ) and cystic fibrosis transmembrane conductance regulator ( CFTR ) genes were investigated as genetic factors. (springermedizin.at)
- The nucleotide sequence data for the seven housekeeping genes (from this study) and the publicly available data in the S. enterica MLST database were concatenated. (asm.org)
Genomic and phenotypic1
- There are already several databases managing both genomic and phenotypic information for the plant kingdom. (biology-online.org)
Causes of phenotypic2
- Insight into the ecological and genetic causes of phenotypic divergence requires knowledge of the moment-by-moment workings of adaptive evolution, but this poses a considerable challenge. (genetics.org)
- Identifying the molecular causes of phenotypic diversity will be enhanced by our ability to decipher individual genomes. (stanford.edu)
- Invasive populations of A . negundo exhibited strong genetic differentiation in all the traits examined. (springer.com)
- Statistical models and reasoning are key to our understanding of the genetic basis of human traits. (stanford.edu)
- It is a valuable concept in the genomic era where "phenes" or "traits" (symptoms) are used to distinguish groups with genetic disorders. (wikipedia.org)
- Phene" is used as to refer to relevant phenotypic traits in the OMIA (Online Mendelian Inheritance in Animals) database. (wikipedia.org)
- Genome-wide association studies (GWAS) present options for direct selection of such traits through genetic markers. (frontiersin.org)
- 2A: With collaborators, apply next generation DNA sequence technology to genotype selected accessions of priority crops for assessing genetic diversity and analyzing genome-wide association among DNA sequence variants and traits of economic importance, emphasizing core subsets of priority genetic resources. (usda.gov)
- 4B: Develop a Pisum recombinant inbred population in order to elucidate the genetic basis of economically important traits. (usda.gov)
- Finally, we assessed the genetic correlation between these two traits using a bivariate animal model. (royalsocietypublishing.org)
- 95% CI: 4.4-36.1%), whereas we found no evidence for the existence of a genetic correlation between these traits. (royalsocietypublishing.org)
- It is difficult enough to understand the genetic and physiological causes of an extant phenotype without also explaining the causes of its past and future evolution. (genetics.org)
- Genotype to Phenotype: The Mouse Genome Database and the Gene Expression Database. (jax.org)
- Due to the monogenic nature and distinctive phenotype of this disease, direct sequencing of the CHM gene, with follow-up deletion/duplication analysis where required, has been highly effective for genetic confirmation of clinically diagnosed individuals 7 . (nature.com)
- At almost every site, additional phenotypic measures were collected, including the Broad Autism Phenotype Questionnaire (BAPQ) and Repetitive Behavior Scale-Revised (RBS-R), as well as the non-word repetition scale, Communication Checklist (Children's or Adult), and Aberrant Behavior Checklist (ABC). (biomedcentral.com)
- Where genetic drift is concerned, "changes in phenotype" can mean anything observable or measurable: appearance, behavior, breeding performance, or experimental readout, to name a few examples. (genengnews.com)
- The Mouse Phenome Database may have such information, which is searchable by strain or phenotype and includes all data collection protocols ( phenome.jax.org ). (genengnews.com)
- The DDBJ Japanese Genotype-phenotype Archive for genetic and phenotypic human data. (nig.ac.jp)
- The Zebrafish Model Organism Database: new support for human disease models, mutation details, gene expression phenotypes and searching. (nih.gov)
- Here, we describe recent enhancements to ZFIN including use of the zebrafish experimental conditions ontology, 'Fish' records in the ZFIN database, support for gene expression phenotypes, models of human disease, mutation details at the DNA, RNA and protein levels, and updates to the ZFIN single box search. (nih.gov)
- Data is being made available through NIH databases (database of Genotypes and Phenotypes (dbGaP) and National Database for Autism Research (NDAR)) with DNA released in Dist 11.0. (biomedcentral.com)
- As the phenotypes of WS are variable even within a family and may be nonpenetrant in some individuals, in 1992 the WS Consortium developed diagnostic criteria for genetic and phenotypic studies. (renalandurologynews.com)
- MZ twins have been used to demonstrate the role of environmental factors in determining complex diseases and phenotypes, but the true nature of the phenotypic discordance nevertheless remains extremely poorly understood. (pnas.org)
- 1999. Electronic access to mouse tumor data: The Mouse Tumor Biology Database (MTB) project. (jax.org)
- A comprehensive public resource of genetic, phenotypic and genomic data. (jax.org)
- http://zfin.org) is the central resource for zebrafish (Danio rerio) genetic, genomic, phenotypic and developmental data. (nih.gov)
- All isolates were sent to the respective national reference laboratories and characterised by quality-controlled sequence typing of the variable region of the staphylococcal spa gene (spa typing), and data were uploaded to a central database. (rug.nl)
- We report phenotypic and genotypic data for the 14 symptomatic males and four females manifesting disease symptoms. (nature.com)
- TheCellMap.org serves as a central repository for storing and analyzing quantitative genetic interaction data produced by genome-scale Synthetic Genetic Array (SGA) experiments with the budding yeast Saccharomyces cerevisiae . (g3journal.org)
- In particular, TheCellMap.org allows users to easily access, visualize, explore, and functionally annotate genetic interactions, or to extract and reorganize subnetworks, using data-driven network layouts in an intuitive and interactive manner. (g3journal.org)
- The EGA is a service and database for permanent archiving and sharing of genetic and phenotypic human data resulting from biomedical research projects. (ebi.ac.uk)
- All these specific characteristics affect breeding procedures and genetic experiments and put high demands on the storage of phenotypic data. (biology-online.org)
- Each phenotypic data point is associated with its own descriptors for tree, year, sample and locality. (biology-online.org)
- Each genetic data point is associated with its own descriptors for DNA sample, tree, genotype, marker and map position. (biology-online.org)
- To meet the needs for the storage and accessibility of these data, a database was needed. (biology-online.org)
- Mainly based on the comprehensive description of the ciliary interactome, quantitative functional assays as well as human genetic data derived from ciliopathy patients, we will generate a comprehensive stream of content-rich quantitative data towards systemic analysis of ciliar function. (europa.eu)
- The difference in frequency of phenotypic females positive for each Y-chromosome marker will be calculated between the generated sets of data. (epa.gov)
- RESEARCH DESIGN AND METHODS A cross-sectional study was conducted that linked daily time series of ambient air pollution data (obtained from central monitoring sites) and plasma CRP concentration in type 2 diabetic patients from the Wellcome Trust Genetic (WellGen) Study, recruited between March 2005 and May 2007. (diabetesjournals.org)
- Our data showed that AIMT cells are steadily present in mice, independent of their genetic background and hygienic status. (jimmunol.org)
- A wealth of phenotypic data on autistic individuals is found in the Simons Simplex Collection (SSC), an archive of samples from "simplex" families that have only one affected child and typically include at least one additional unaffected child ( 12 ). (pnas.org)
- Genetic and biochemical data indicate that siRNAs [19- to 25-nucleotide double-stranded (ds)RNAs] are produced from much larger RNAs by Dicer. (thefreelibrary.com)
- In this talk it is discussed the importance of high resolution images databases presented as "morphospecies" web pages to share phenotypic data, regardless of their taxonomic status. (americanarachnology.org)
- The creation of large databases that include genomic information on individual participants, coupled with the move to universal electronic medical records, makes it increasingly possible to identify individual research participants in databases, despite efforts to "de-identify" their data, and potentially to unearth an individual's private medical information. (genome.gov)
- To maximize the usefulness of our sequencing data, we developed an analysis pipeline and genetic variant database. (jax.org)
- In particular, the linking of EHRs to biospecimens and genomic data in biobanks may help address what has become a rate-limiting study for genetic research: the need for large sample sizes. (broadinstitute.org)
- In addition to genetic data, the company also compiles phenotypic (survey) data from research participants, which provides researchers with important insights into the interplay between genetics and overall health. (redorbit.com)
- Within an 18-month period, 23andMe assembled and analyzed genetic data from more than 3,400 Parkinson´s patients and successfully replicated the top 20 previously known genetic associations with Parkinson´s disease in addition to determining new genetic associations for Parkinson´s. (redorbit.com)
- That study identified two novel loci, rs6812193 near SCARB2 and rs11868035 near SREBF1/RA11 and replicated those loci in an independent data cohort from the National Institute of Neurological Disease and Stroke (NINDS) database. (redorbit.com)
- The goal of the Data Resource Center is to accelerate discovery of genetic etiology and biologic pathways associated with cardiovascular development and congenital heart disease by facilitating access to and querying of annotated data from cardiovascular development studies. (medworm.com)
- With more than 10 million kits sold, and 80% of customers consenting to research, 23andMe has the world's largest set of genotypic information paired with billions of phenotypic data points contributed by engaged customers. (prnewswire.com)
- Through complex analysis of the data, the researchers learned that the width of the nostrils and the base of the nose measurements differed across populations more than could be accounted for by genetic drift. (wtkr.com)
- Authors of papers describing enzymological studies should review the standards of the STRENDA Commission for information required for adequate description of experimental conditions and for reporting enzyme activity data http://www.beilstein-institut.de/en/projects/strenda/guidelines . (asm.org)
- The FIND consortium consisted initially of eight centers, with three centers added to enhance minority recruitment, a Genetic Analysis and Data Coordinating Center, and the NIDDK (National Institute of Diabetes and Digestive and Kidney Diseases). (diabetesjournals.org)
- The Monarch Initiative allows for phenotypic comparison across species by merging data from multiple open sources. (ki.se)
- In this study, we reanalyzed the publicly available data in the Salmonella MLST database ( http://mlst.ucc.ie/ ) and included an additional 56 strains of S. enterica subsp. (asm.org)
- The ALLPATHS scaffolds were anchored onto the 8 linkage groups on the basis of alignments to both the optical map (OM) and genetic map derived from genotyping-by-sequencing (GBS) data. (jcvi.org)
- Genetically based phenotypic differentiation between native and invasive populations of exotic plants has been increasingly documented and commonly invoked to explain the success of some invasive species. (springer.com)
- DNA fingerprinting indicated that the outbreak isolates were clonal and genetically distinct from our database. (cdc.gov)
- Objective 4: Develop selected populations of priority genetic resources which are genetically enhanced for potentially higher yields, tolerance to environmental extremes, host-plant resistance to diseases and pests, and/or increased nutritional quality. (usda.gov)
- We characterize mice carrying spontaneous genetic mutations genetically, genomically and phenotypically prior to making them available to researchers. (jax.org)
- They are considered genetically identical, but significant phenotypic discordance between them may exist. (pnas.org)
- Native and invasive populations of A . platanoides were plastic across environments but in contrast did not exhibit any genetic differentiation. (springer.com)
- Plastic effects are likely more important during colonization and establishment whilst genetic effects may contribute more significantly during the spread of established populations. (springer.com)
- Alexander JM (2010) Genetic differences in the elevational limits of native and introduced Lactuca serriola populations. (springer.com)
- 2000 ). As none of the existing public databases were able to support extensive studies on marker-trait associations in pedigreed populations of perennial crops, AppleBreed DB was developed. (biology-online.org)
- It has been theorized that the transition of Holocene populations into agrarianism and urbanization brought about culture-gene co-evolution that favored via directional selection genetic variants associated with higher general cognitive ability (GCA). (cambridge.org)
- As a source for functional polymorphism, it contributes to the genetic and phenotypic diversity of present‐day human populations. (els.net)
- Balancing selection maintains genetic and phenotypic diversity in populations. (els.net)
- Using noses as just one example, said Shriver, "the surface, the appearance of people in different populations is much greater than what the genetic differences show on average. (wtkr.com)
- This is already taking place in cancer research where we can measure the differences in genetic mutations inherited from our parents versus those acquired over our lives from environmental damage. (edge.org)
- Direct-to-consumer marketing of targeted genetic scans for particular disease mutations and for ancestry-informative markers has been available for several years, and a growing number of companies now offer direct-to-consumer (DTC) personalized genomic services based on more comprehensive genomic analyses. (genome.gov)
- Mice harboring spontaneous mutations have long been a major source for animal models of human genetic disorders, but until recently the process of identifying causative mutations has been time-consuming, labor-intensive and costly. (jax.org)
- We characterized genetic and phenotypic characteristics of isolates from a C. parapsilosis outbreak that occurred in a Mississippi community hospital ( 20 ) and compared these characteristics with those of isolates obtained from persons with sporadic infections at our tertiary hospital. (cdc.gov)
- The age of the trees has to be taken into account when phenotypically characterizing material because phenotypic characteristics change with age. (biology-online.org)
- Other characteristics give perennial crops some advantages in genetic research, such as their suitability for vegetative propagation. (biology-online.org)
- This usually will include characteristics such as short life-cycle, techniques for genetic manipulation ( inbred strains, stem cell lines, and methods of transformation ) and non-specialist living requirements. (thefullwiki.org)
- Clinical and genetic characteristics of hereditary pancreatitis in Europe. (springermedizin.at)
- enterica and demonstrate that Australian strains belonging to clades A and B differ in their host distributions, as well as their phenotypic and virulence characteristics. (asm.org)
- Loci contributing to the primary phenotypic innovation were sought by screening a WS transposon library for niche-defective (WS - ) mutants. (genetics.org)
- Author Correction: Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis. (nih.gov)
- Genetic diversity of MRSA differed considerably between countries with dominant MRSA spa types forming distinctive geographical clusters. (rug.nl)
- In fact, genetic differences between various population groups is not that great. (wtkr.com)
- several types of phenotypic discordance may be observed, such as differences in susceptibilities to disease and a wide range of anthropomorphic features. (pnas.org)
- In this context, differences in the placenta, amniotic sac, and vascularization of the separate cell masses or even mosaicism in genetic and cytogenetic markers in MZ may exist ( 3 ), although the published studies are very few in number. (pnas.org)
- Indeed, epigenetic profiles may represent the link between an environmental factor and phenotypic differences in MZ twins. (pnas.org)
- Cloned animals provide another example of how epigenetics may explain phenotypic differences in beings that have identical genetic sequences. (pnas.org)
- The application of advanced genetic technology, such as Genome-Wide Association Studies (GWAS), large-scale gene expression studies, and proteomics, has yielded a wealth of information. (hindawi.com)
- 1999. GXD: A Gene Expression Database for the laboratory mouse. (jax.org)
- Gene Expression Databases. (jax.org)
- 1997. The Mouse Gene Expression Database GXD. (jax.org)
- Abandon candidate gene approaches in favor of well-powered, unbiased genetic association studies for gene discovery. (nih.gov)
- Currently, 293 disease-causing variants in the CHM gene are listed in the Human Genome Mutation Database 6 . (nature.com)
- Conversely, genetic interaction (GI) screens can provide insights into the biological role(s) of individual gene and higher order associations. (prolekare.cz)
- To date, only the most severe class of de novo mutation, likely gene disruptive (LGD), has been correlated with IQ, a phenotypic characteristic associated with ASD, but not a core feature. (pnas.org)
- The ability to scrutinize biological function by knocking out virtually any gene using small interfering (si)RNAs now allows genetic studies to be completed at a genomewide level. (thefreelibrary.com)
- Your siblings should consider genetic testing to try and identify the mutant gene responsible for causing the disease. (blindness.org)
- If the gene is identified, medical databases such as PubMed ( http://www.ncbi.nlm.nih.gov/pubmed/ ) can be searched to identify any research that is being conducted. (blindness.org)
- SLC6A1 epileptic encephalopathy is an autosomal dominant genetic disorder characterized by the loss-of-function of one copy of the human SLC6A1 gene. (rarediseases.org)
- The use of a single cross suffices as long as the genetic basis of a trait is extremely simple (only one locus with one + allele). (biology-online.org)
- This strategy is made possible by the common descent of all living organisms, and the conservation of metabolic and developmental pathways and genetic material over the course of evolution . (thefullwiki.org)
- Due to genetic and phenotypic heterogeneity, the etiology of autism spectrum disorder (ASD) is not well understood. (hhs.gov)
- This makes molecular genetic studies much easier. (wikipedia.org)
- With the help of molecular and multi-modal diagnostic tools inclusively modern imaging technologies the phenotypic and genotypic diverse disease can be stratified very accurately. (uni-tuebingen.de)
- The resulting research group will be a high quality, adaptive and cooperative European consortium composed of psychologists, molecular biologists/geneticists, clinicians and genetic statisticians. (europa.eu)
- Other databases have been developed for managing genome molecular information (Rhee et al . (biology-online.org)
- Informatics methodologies include: supervised and unsupervised machine learning, natural language processing, molecular dynamics simulations, database design, knowledge representation. (stanford.edu)
- The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis). (iospress.com)
- This study highlights subgroups of patients with scleroderma esophagus according to phenotypic findings of dermatologic changes, RP, and PF. (biomedsearch.com)
- In addition, the scale and scope of EHR databases have been used successfully to identify phenotypic subgroups and derive algorithms for longitudinal risk prediction. (broadinstitute.org)
Model organism database1
- see http://www.gmod.org/wiki/index.php/MOD_Face_Summary for the summary of what was covered the first day when model organism database user interfaces was discussed, and http://www.gmod.org/wiki/index.php/GMOD_Middleware for the summary of the second day of the meeting, when software interfaces (i.e., middleware) for Chado were discussed. (gmod.org)
- We compared phenotypic markers of pathogenesis, including adherence, biofilm formation, and protein secretion (secretory aspartic protease [SAP] and phospholipase). (cdc.gov)
- In a unique public-private partnership, 13 sites with extensive experience in both the assessment and diagnosis of ASD embarked on an ambitious, 2-year program to collect samples for genetic and phenotypic research and begin analyses on these samples. (biomedcentral.com)
- Using protocols developed during a preliminary study, we will perform genetic analyses on fish from the Sacramento and San Joaquin River Basins. (epa.gov)
- We report the findings from the first-phase genetic analyses in 1,227 participants from 378 pedigrees of European-American, African-American, Mexican-American, and American Indian descent recruited from eight centers. (diabetesjournals.org)
- 5 However, it is often difficult to achieve a definitive genetic diagnosis, for example, in children with developmental delay, autism and/or congenital anomalies because their phenotypic features are often nonspecific and the differential diagnosis can include hundreds of rare genetic disorders. (nature.com)
- Hypertrophic cardiomyopathy (HCM) is one of the major cardiac genetic disorders among South Asians, leading to contractile dysfunction, heart failure, and sudden cardiac death. (frontiersin.org)
- Through this Funding Opportunity Announcement (FOA), the National Institute of Mental Health (NIMH) seeks applications to develop, sustain, enhance, and enrich a centralized national biorepository for genetic studies of psychiatric disorders for facilitation and acceleration of the scientific understanding of the genetic risk architecture underlying mental disorders. (medworm.com)
- This problem stops further comparisons with such as species distributions, phenotypic and genetic variations, etc. (americanarachnology.org)
- Genetic, epigenetic and environmental factors determine susceptibility to renal injury and the development of chronic kidney disease. (frontiersin.org)
- Here we have performed genome-wide association studies (GWAS) to identify associated single nucleotide polymorphisms (SNPs) and investigate the genetic background not only for susceptibility to - but also for recoverability from mastitis. (frontiersin.org)
- The findings in the current study are, therefore, a starting point for further investigations in identifying causal genetic variants or chromosomal regions for both susceptibility to - and recoverability from mastitis. (frontiersin.org)
- Finally, we discuss some of the potential future benefits, and problems, that a knowledge of the genetic component to BTB resistance/susceptibility may bring to the agricultural industries and the wider scientific community. (royalsocietypublishing.org)
- The present study examined the occurrence of the genetic elements bla OXA and IS Aba 1 and their relationship with susceptibility to carbapenems in clinical isolates of the Acinetobacter calcoaceticus-Acinetobacter baumannii complex. (scielo.br)
- It is an autosomal dominant genetic disorder characterized by piebaldism (congenital poliosis and leukoderma), pigmentary abnormalities of the iris, lateral displacement of the inner canthi of the eyes (dystopia canthorum) and sensorineural deafness. (renalandurologynews.com)
- The PCGCs mission is to identify genetic causes of human congenital heart disease (CHD) and to relate genetic variants in patients with CHD to clinical outcomes through collaborative, multi-center studies. (medworm.com)
- The ENA is a partner in the International Nucleotide Sequence Database Collaboration (INSDC) to provide worldwide exchange and replication of all public nucleotide sequences. (ebi.ac.uk)
- We are approaching the time when we will go from having a few human genome sequences to complex databases containing first tens, to hundreds of thousands, of complete genomes, then millions. (edge.org)
- Sequencing was performed using BigDye Terminator chemistry (Applied Biosystems, Inc.) and an ABI Prism 3100 genetic analyzer (Applied Biosystems, Inc.). Sequences were submitted to the Salmonella MLST database ( http://mlst.ucc.ie/mlst/dbs/Senterica ) to determine the allele and sequence type designations for these isolates. (asm.org)
- When considering medically actionable secondary findings in addition to primary WGS findings, 38% of patients would benefit from genetic counselling. (nature.com)
- Symptoms and esophageal motility based on phenotypic findings of scleroderma. (biomedsearch.com)
- Recent findings identify examples of specific etiological mechanisms, while underscoring the highly complex nature of the genetic architecture in ASD. (biomedcentral.com)
- 2B: With collaborators, characterize with NIR spectroscopy the major nutritional component content of food legume genetic resources. (usda.gov)
- The goal of the project is to provide cross-species links between these plants at the genomic, genetic and phenotypic levels to further legume research and breeding. (jcvi.org)
- In a prospective study we utilised WGS and comprehensive medical annotation to assess 100 patients referred to a paediatric genetics service and compared the diagnostic yield versus standard genetic testing. (nature.com)
- Genetics is a strong determining factor, as inferred by the high rate of concordance between identical twins, elevated sibling risk, and the presence of genetic evidence. (pnas.org)
- Scientists at The Jackson Laboratory (JAX) discussed the dramatic changes that have taken place in the field of genetics over the past three decades - and how those advancements are allowing us to change the course of diseases that have a genetic basis. (jax.org)
- The recent development of sequencing technology allows identification of association between the whole spectrum of genetic variants and complex diseases. (genetics.org)
- These numbers are significant given that 50-80% of the resources used to manage diseases in full-service paediatric inpatient facilities have a recognised genetic component. (nature.com)
- The study of phenotypic expression of the diseases is focused on cutaneous, opthalmologic and vascular tissues. (clinicaltrials.gov)
- In the process we identify parallels to orthologous rare human genetic diseases, creating animal models to facilitate the investigation of disease mechanisms and possible therapies. (jax.org)
- The ability to provide optimal clinical management for these individuals is dependent on identifying the underlying genetic cause in order to determine prognosis, guide treatment and institute appropriate surveillance and prevention programmes. (nature.com)
- Identifying genetic drift relies on colonists and researchers to first notice phenotypic change, and second, to do something about it. (genengnews.com)
- A less severe class of de novo mutation, missense, while enriched in individuals with ASD, has been refractory to correlation with any ASD phenotypic feature. (pnas.org)
- 1C: Regenerate accessions of priority plant genetic resources, emphasizing accessions with low germination, few seeds in storage, or those not yet backed-up at secondary sites. (usda.gov)
- Worldwide genetic relationships of pigs as inferred from X chromosome SNPs. (biomedsearch.com)
- We will determine the frequency and distribution of phenotypic female Fall-Run Chinook salmon in the Central Valley that test positive for a Y-chromosome specific genetic marker. (epa.gov)
- The MHC complex in chromosome 6 shows striking, and unique, genetic signatures of balancing selection. (els.net)
Rare genetic variants1
- The 23andMe research platform can effieciently identify healthy individuals with rare genetic variants. (redorbit.com)
- Within a decade we will begin rapidly accumulating the complete genetic code of humans along with the phenotypic repertoire of the same individuals. (edge.org)
- However, when these new powerful computers and databases are used to help us analyze who we are as humans, will society at large, largely ignorant and afraid of science, be ready for the answers we are likely to get? (edge.org)
- Classically, most of our understanding of the influence of balancing selection in humans was based on few well‐known examples, but recent advances at the genome scale (made possible by newly available genomic databases and analytical methods) provide further insights on the influence and targets of balancing selection in humans. (els.net)
- If not genetic drift, then natural selection must have played a hand in the evolution of nose shape in humans. (wtkr.com)
- 1999. The Mouse Genome Database (MGD): Genetic and genomic information about the laboratory mouse. (jax.org)
- 1998. The Mouse Genome Database (MGD): a community resource. (jax.org)
- 1997. The Mouse Genome Database (MGD). (jax.org)
- Defining the genetic control of human blood plasma N-glycome using genome-wide association study. (nih.gov)
- JCVI hosts the M. truncatula genome sequence and annotation in three forms: a Tripal database, JBrowse and an instance of InterMine named MedicMine. (jcvi.org)
- 1A: Acquire samples of priority plant genetic resources (including crop wild relatives) from the U.S. and/or other countries to fill current gaps in NPGS collections of these priority crops. (usda.gov)
- 1B: Conserve and distribute WRPIS plant genetic resources and their associated information. (usda.gov)
- Clinical implementation of WGS as a primary test will provide a higher diagnostic yield than conventional genetic testing and potentially reduce the time required to reach a genetic diagnosis. (nature.com)
- Plasma are also collected for all patients and stored in our clinical research biological center in Angers, including genetic (DNA) material extracted from diagnostic skin biopsy. (clinicaltrials.gov)
- The aim of the study was to make a phenotypic description of the Spanish multicentre glaucoma group cohort of patients. (hindawi.com)
- The cohort is intended to study the phenotypic expressions of the pseudoxanthoma elasticum (PXE) disease in various tissues (eye, skin, arteries, etc). (clinicaltrials.gov)
- 23andMe's Therapeutics team was established in 2015 with the goal of leveraging human genetic information to improve the way drug discovery is currently conducted. (prnewswire.com)
- Based upon strong genetic evidence, 23andMe's team generated a bispecific antibody that blocks the IL-36 cytokine family. (prnewswire.com)
- We use this finding to propose a combined classification of phenotypic severity: mild (little impairment of either), moderate (impairment mainly to motor skills), and severe (impairment of both IQ and motor skills). (pnas.org)
Synthetic Genetic Array1
- Here we present a systematic, unbiased, and quantitative synthetic genetic array screen in E. coli describing the genetic dependencies and functional cross-talk among over 600,000 digenic mutant combinations. (prolekare.cz)
- Because mastitis is very frequent and unavoidable, adding recovery information into the analysis for genetic evaluation of mastitis is of great interest from economical and animal welfare point of view. (frontiersin.org)
- Phenotypic sex of progeny will be verified by histological analysis of gonad tissue, thereby permitting validation of OtY1 as a biomarker of sex reversal in Fall-Run Chinook. (epa.gov)
- By performing multifactorial analysis of the DNA sequence variations, together with the comprehensive phenotypic information gleaned from every branch of human investigatory discipline, for the first time in history, we will be able to provide answers to quantitatively questions of what is genetic versus what is due to the environment. (edge.org)
- ular genetic studies. (deepdyve.com)