Phenotypes databases genetic. Medical search. Frequent questions

Despite being composed of close kin, these groups harbor an unexpectedly high degree of variation in genotypes and social behavioral phenotypes. (databasefootball.com)
Fortunately, technological developments within genome research, notably the recent ability to retrieve massive amounts of DNA sequence data based on next generation sequencing , will make possible completely novel investigations of the link between genotypes and phenotypes in non-model organisms. (europa.eu)
The genout program accesses the database tables, filters and merges the data and outputs genotypes in one of several common formats. (biomedcentral.com)
Though the associations between CODIS markers and specific genetic variants known to influence phenotypes are low, there may still be a connection between CODIS records and SNP information if pairs of CODIS and SNP genotypes can be identified as coming from the same person-that is, if CODIS and SNP records can be linked. (rti.org)
A recently reported genetic record-linkage method assesses whether a particular set of genotypes from the CODIS markers is likely drawn from the same person (or an identical twin) as a set of genome-wide SNP genotypes (Edge, Algee-Hewitt, Pemberton, Li, & Rosenberg, 2017, PNAS). (rti.org)
In this webinar, we will discuss the population-genetic basis of our method-linkage disequilibrium, or LD-and describe how LD can be leveraged to identify the closeness of a "match" between two sets of genotypes, even when the sets of genotypes share no markers in common. (rti.org)

Here, we review the arrival of genetic screens in malaria parasites to analyse parasite gene function at a genome-scale and their impact on understanding parasite biology. (portlandpress.com)
Systematic study of clinical phenotypes is important for a better understanding of the genetic basis of human diseases and more effective gene-based disease management. (nih.gov)
Consequently, any adaptive matching between local environments (e.g., prey sizes) and snake phenotypes (e.g., body sizes and relative jaw sizes) must be achieved via phenotypic plasticity rather than spatial heterogeneity in gene frequencies. (datadryad.org)
Entrez is NCBI's primary text search and retrieval system that integrates the PubMed database of biomedical literature with 38 other literature and molecular databases including DNA and protein sequence, structure, gene, genome, genetic variation and gene expression. (nih.gov)
Image-based trait data derived from this work will enable progress in gene-phenotype mapping to novel traits and understanding patterns of evolution. (sicb.org)
In FlyBase (the Drosophila genetics database) we have therefore developed a pipeline to obtain such summaries from researchers who have worked extensively on each gene. (stanford.edu)
The database is manually curated by experts and can be searched by OMIM ID, gene, disease, or phenotype. (go.jp)
The physical characteristics, or phenotypes, of the mutants are recorded, and a gene of interest is then isolated based on a particular phenotype. (databasefootball.com)
By using genetic screening on the common fungal model species Aspergillus nidulans , Dr. Oakley and his team targeted a gene that fit their screening criteria: one that seemed to interact with beta-tubulin. (databasefootball.com)
The locus of Rubinstein-Taybi syndrome is located on band 16p13.3, which includes a gene encoding a binding protein for cyclic adenosine monophosphate-response element binding protein (CBP) ( CREBBP or CBP gene) that is responsible for the phenotype of Rubinstein-Taybi syndrome. (medscape.com)
The associated human phenotype of de novo heterozygous mutations in this gene is variable, but moderate to severe neurodevelopmental delay and learning disability are common to all. (bmj.com)
Examples of 2-omics analyses include expression quantitative trait locus eQTL (Franke & Jansen, 2009) and methylation quantitative trait locus meQTL (Smith, Kilaru, Kocak, Almli, & Mercer, 2014) that, respectively, assess the influence of genetic and epigenetic markers on gene expression. (researchgate.net)
These evidences are often based on the derivation of standard measures of association, linking (epi-)genetic markers to gene expression combined with gene expression analysis (Wagner, Busche, Ge, Kwan, & Pastinen, 2014). (researchgate.net)
We propose a software tool that using gene-phenotypes association techniques in connection with gene network-based correlation algorithms allows the identification of statistically significant microRNA-phenotype-drug associations. (embnet.org)
This research program will combine studies of candidate genes with large-scale gene expression analysis, several mapping approaches and comparative genomics to study the genetic basis of trait evolution in wild bird populations. (europa.eu)
The clinical phenotype and gene analysis of syndromic deafness with PTPN11 gene mutation]. (cdc.gov)
The genetic changes associated with Greig cephalopolysyndactyly syndrome include insertions or deletions of a small amount of DNA and changes in single DNA building blocks (base pairs) in critical regions of the gene. (medlineplus.gov)
The genetic changes that cause Greig cephalopolysyndactyly syndrome prevent one copy of the gene in each cell from producing any functional GLI3 protein. (medlineplus.gov)
mutations high frequency of IDH1/2 mutations in oligodendrogliomas, astrocytomas and in alteRations in the RB1 pathway in The TET2 gene encodes the -KG- secondary glioblastomas derived thereof low-gRade diffuse gliomas lacking dependent enzyme that catalyses suggests that these tumours share a common genetic alteRations the conversion of 5-methylcytosine to common progenitor cell population. (who.int)
The CGC tool was developed by combining genomic regions in the rat, associated with the autoimmune experimental arthritis phenotype, with rat/human gene homology data, and with descriptions of phenotypic gene effects and selected keywords. (medscape.com)
The CGC application ranks gene candidates for 37 rat genomic regions associated with autoimmune experimental arthritis phenotypes. (medscape.com)
[ 2 , 3 , 4 ] A full list of the described mutations is available at the TBX5 Gene Mutation Database , an online locus-specific database that contains germline and somatic mutations of the TBX5 gene. (medscape.com)
The focal dermal hypoplasia (FDH) genetic defect has been associated with at least 80 different mutations in the PORCN gene on the X chromosome. (medscape.com)

ClinVar is an archive of compiled data relating to genotype and phenotype variations among humans. (darkdaily.com)
Conclusions These findings provide definitive evidence for the role of PURA in causing a variable syndrome of neurodevelopmental delay, learning disability, neonatal hypotonia, feeding difficulties, abnormal movements and epilepsy in humans, and help clarify the role of PURA in the previously described 5q31.3 microdeletion phenotype. (bmj.com)
Prof Clare Rusbridge and Dr Penny Knowler have had a collaboration with Dr Kibar's group of the University of Montreal since 2005 with an aim of identifying genetic markers for canine CMSM and to translate the findings into genomic studies on humans. (surrey.ac.uk)
The ability of adult humans to digest the milk sugar lactose - lactase persistence - is a dominant Mendelian trait that has been a subject of extensive genetic, medical and evolutionary research. (blogspot.com)

From detailed patterns of genetic variation, we could infer that the groups consist of diversified cell lines that appear to have co-existed in many cases for hundreds of generations. (databasefootball.com)
We further inspected genetic variation along the branches of these networks and also mapped observed social behaviors onto the group phylogenies. (databasefootball.com)
Overall, the program will be able to reveal the molecular genetic architecture behind phenotypic variation. (europa.eu)
The SG10K_Health project is a multi-institutional initiative developing an 'all-of-Singapore' coordinated approach to precision medicine (PM). PM is a fast emerging field that seeks to improve treatment and prevent disease by considering individual and population genetic variation in genes, environment and lifestyle patterns. (a-star.edu.sg)
The current lack of large-scale control databases of Asian-specific genetic variation linked to clinical phenotypes is a significant barrier to the conduct of PM in Asia, to avoid mis-diagnosis and overtreatment due to the mistaken identification of pathogenic variants. (a-star.edu.sg)
The Singaporean population consists of three major ethnic groups, Chinese, Malay, and Indian, which together represent over 80% of the genetic variation in Asia. (a-star.edu.sg)
We suggest that further studies of genetic variation in these regions should reveal additional nucleotide variants that are associated with lactase persistence. (blogspot.com)
I have a background as a systematist and perform genetic and experimental research on the evolution of wild plants, with special emphasis on natural selection, ecotypic variation, floral diversification and the evolutionary effects of inbreeding. (lu.se)
In the past years, I have been involved in several studies on genetic erosion - the loss of genetic variation resulting from genetic drift in small, fragmented populations. (lu.se)
Data from artificially bottlenecked populations of Nigella degenii and wild populations of Brassica cretica show that genetic drift causes idiosyncratic, trait-specific changes in the genetic variation rather than a consistent, proportional decline in all measures of variation. (lu.se)
Our results also indicate that the structuring of quantitative genetic variation can be relatively insensitive to landscape fragmentation, at least over the timescales considered by most conservation biologists. (lu.se)

Psychomotor developmental outcomes appear variable between patients, and we propose a possible genotype-phenotype correlation, with disruption of Pur repeat III resulting in a more severe phenotype. (bmj.com)
[ 7 ] No genotype-phenotype correlation has been found. (medscape.com)

ClinVar is a public archive of submitted reports of clinically relevant human genetic variants and their relationships to phenotypes, with supporting evidence. (nih.gov)
ClinVar provides standardized nomenclature for variants and phenotypes, a review status for variants, and links to related NCBI literature and molecular databases. (nih.gov)
ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, public archive of human genetic variants and interpretations of their significance to disease, maintained at the National Institutes of Health. (nih.gov)
Within the field of genetics, Charité's main areas of research focus include the identification and analysis of disease mechanisms, biocomputational analysis, the analysis and linking of clinical symptoms (phenotype) with genetic variants, as well as the development of genetic testing sys-tems and their implementation in clinical practice. (charite.de)
Through this database, individuals can present and peruse submissions regarding variants found in patient samples. (darkdaily.com)
Genetic predisposition to risk for or protection from type 1 diabetes (T1D) is highly polygenic, with the total possible set of disease-associated variants yet to be fully defined 1 . (nature.com)
Complementary methods for detecting genetic variants associated with T1D. (nature.com)
The identification of causal or predictive variants/genes/mechanisms for disease-associated traits is characterized by 'complex' networks of molecular phenotypes. (researchgate.net)
Using an extensive database of lactase persistence phenotype frequencies, together with information on how those data were collected and data on the frequencies of lactase persistence variants, we present a global summary of the extent to which current genetic knowledge can explain lactase persistence phenotype frequency. (blogspot.com)
The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome. (cdc.gov)

Introduction to Human Phenotype Ontology. (crossref.org)
This Human Phenotype Ontology database contains the symptoms of all known genetic diseases, and stores them in digital format. (charite.de)
The 'Human Phenotype Ontology (HPO)' (used by the PhenIX computer program for the diagnosis of rare genetic diseases) was first developed in collaboration with the MPI and is now used by researchers all over the world. (charite.de)
The Ontology describes the phenotypic features recorded in relation to human diseases (in particular genetic diseases). (charite.de)
To provide consistent computable descriptions of phenotype data, PomBase is developing a formal ontology of phenotypes observed in fission yeast. (ucl.ac.uk)

CRISP-view: a database of functional genetic screens spanning multiple phenotypes. (bvsalud.org)
The clinical presentation of asthma and its immunological and molecular ethology varies significantly between patients and multiple phenotypes have been described. (lu.se)

A key aspect in facilitating such studies requires standardized representation of the phenotype data using common data elements (CDEs) and controlled biomedical vocabularies. (nih.gov)
New databases are added as biomedical science advances and new kinds of data become available. (nih.gov)
A Java client application for manual creation and storage of biomedical annotations (starting with phenotype annotations) using terms from multiple ontologies. (bioontology.org)
A database of manually generated biomedical annotations (starting with phenotype annotations) summarizing key attributes such as anatomy, phenotype, and genetic features. (bioontology.org)

Strong spatial divergence in morphology among snake colonies, despite genetic homogeneity, supports the idea that phenotypic plasticity can facilitate speciation by creating multiple phenotypically distinct sub-populations shaped by their environment. (datadryad.org)
ClinVar recently started accepting submissions that are focused primarily on providing phenotypic information for individuals who have had genetic testing. (nih.gov)
Thus, we set out to more closely examine the genetic and phenotypic relationships between members of such fruiting body groups of M. xanthus in patches of terrestrial soil. (databasefootball.com)
Starting from matrices of phenotypic and drugs similarities,the tool provides users an interface to establish those miRNAs, known to be responsible for the regulation of genes involved in a disease, associated with other diseases showing similar phenotypes. (embnet.org)
In the second step, we calculate the phenotypic distance matrix between any two genes according to the their common phenotypes. (embnet.org)

Lactase persistence genotype data is currently insufficient to explain lactase persistence phenotype frequency in much of western and southern Africa, southeastern Europe, the Middle East and parts of central and southern Asia. (blogspot.com)

The authors mapped phenotype data dictionaries from five different eMERGE (Electronic Medical Records and Genomics) Network sites studying multiple diseases such as peripheral arterial disease and type 2 diabetes. (nih.gov)
What are the causes of genetic diseases? (charite.de)
The new program, which is known by the name of 'PhenIX', uses these to produce a list of possible diagnoses, thereby making a major contribution to the early detection of rare genetic diseases. (charite.de)
Our geneticists are the leading experts in the field of high-throughput genome sequencing, technologies which are capable of producing comprehensive genome analyses of nearly all known genetic diseases. (charite.de)
In the not-so-distant past, genetic testing was only performed in relation to specific diseases and conditions. (darkdaily.com)
It provides unique identifiers, names and synonyms, list of complex members with their unique identifiers (UniProt, ChEBI, RNAcentral), function, binding and stoichiometry annotations, descriptions of their topology, assembly structure, ligands and associated diseases as well as cross-references to the same complex in other databases (e.g. (stanford.edu)
The increasing incidence of genetic diseases and rising awareness of personalized medicine, growing importance of genotyping in drug development, and the increasing demand for bioinformatics solutions in data analysis are also expected to promote market growth in the coming years. (marketsandmarkets.com)
It is well known that microRNAs (miRNAs) expressions strongly affect phenotypes sometimes causing diseases. (embnet.org)
Genetic studies of complex human diseases typically involve multiple iterations of genetic marker generation. (biomedcentral.com)
The Hebrew University Genetic Resource, or HUGR, is a case-control DNA database for genetic association studies of common diseases. (genomeweb.com)
The database contains samples representing 16 different diseases, including type I and II diabetes, various cancers, neurological and psychiatric diseases, hypertension, and asthma. (genomeweb.com)
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. (cdc.gov)

The BioSystems database collects information on interacting sets of biomolecules involved in metabolic and signaling pathways, disease states, and other biological processes. (nih.gov)
The process of confirming or ruling out a genetic disease starts with a consultation at our outpatient clinic. (charite.de)
This is where physicians provide patients and their families with the personal attention and support they need while undergoing investigations to confirm or rule out a genetic disease. (charite.de)
This method of using mice as models for the study of rare human genetic dis-orders is often the only way for researchers to find out more about the disease and develop treat-ments. (charite.de)
Mitochondrial disease is a class of rare genetic disorders caused when cellular mitochondria do not properly produce energy. (genomeweb.com)
Under the terms of the deal, Courtagen will use its ZiPhyr bioinformatics platform - which analyzes genetic variant data using proprietary algorithms to determine the pathogenicity of mutations and identify potential disease targets - to help Astellas develop a predictive model to test mitochondrial disease drug candidates. (genomeweb.com)
OMIM is a database of human disease and genetic information and the online representation of Mendelian Inheritance in Man, a project initiated in the 1960s. (go.jp)
Genetic origin of a disease is often discovered once its phenotype has been clearly defined. (embnet.org)
NEW YORK (GenomeWeb News) - The Hebrew University of Jerusalem is launching a new DNA-disease database and genotyping service, the university's technology transfer company Yissum said today. (genomeweb.com)
The database contains between 500 and 1,200 samples for each disease and a common control set containing DNA from 5,000 self-declared healthy controls. (genomeweb.com)
Asthma pathogenesis is still not well understood but the disease has been linked to several genetic, infectious and environmental factors. (lu.se)

Most human phenotypes can be found in the database OMIM (Online Mendelian Inheritance in Man). (embnet.org)
proposed a text mining technique to be applied to OMIM in order to find phenotypes similarity. (embnet.org)
In the first step, we extract for each pairs of genes the phenotypes from OMIM. (embnet.org)

The vast diversity of tests available range from carrier testing for genetic disorders, and diagnostic testing for genetic or chromosomal conditions, to prenatal diagnosis and newborn screenings, to genealogical and paternity testing to forensic analysi s. (darkdaily.com)

The main purpose of a bioinformatics platform within SWEGENE should be to provide com- putational facilities and logistical support [databases & infrastructure] for scientists whose primary research in biology and medicine benefit from computational approaches. (lu.se)
Various software resources are also required to enable users to conveniently connect their experimental results with publicly, and application specific, bioinformatics databases and tools. (lu.se)
The purpose of a bioinformatics platform within SWEGENE is to provide computational facilities and logistical support [databases, algorithms & infrastructure] for problem oriented scientists in an optimal way. (lu.se)

This document is an overview of the Entrez databases, with general information on searching and displaying data. (nih.gov)
Most importantly Entrez integrates data with links within and between databases. (nih.gov)
BioProject provides a central point to link to all data associated with a project in the NCBI molecular and literature databases. (nih.gov)
BioSample contains descriptions of biological source materials used in studies that have data in other NCBI molecular databases such as Assembly, Nucleotide and SRA. (nih.gov)
BioSystems currently contains biological pathways from the Kyoto Encyclopedia of Genes and Genomes (KEGG) and the EcoCyc ( Escherichia coli K-12 MG1655) subset of the BioCyc databases and is designed to accommodate other data in the future. (nih.gov)
GNP-5285 ] - Insert Walnut genetic resources, phenotyping, SSR markers data from BRC (ODS). (inra.fr)
She recently led an examination of some data located in the ClinVar database. (darkdaily.com)
Unlike genetic data, the phenotypes, or traits of organisms such as their visible features, are not available in databases for analysis. (sicb.org)
We discuss the general utility of this approach for other databases that capture data from the research literature. (stanford.edu)
Data were technically validated using published algorithms to evaluate donor relatedness, ancestry, imputed HLA, and T1D genetic risk score. (nature.com)
These data are publicly-available to enable genotype-specific sample requests and the study of novel genotype:phenotype associations, aiding in the mission of nPOD to enhance understanding of diabetes pathogenesis to promote the development of novel therapies. (nature.com)
A limited number of initiatives exist aiming to find the most optimal ways to analyze multiple, possibly related, omics databases, and fully acknowledge the specific characteristics of each data type. (researchgate.net)
Mapping Switchgrass Traits with Common Gardens The combination of field data and genetic information has allowed researchers to associate climate adaptations with switchgrass biology. (doe.gov)
A Better Way to Find RNA Virus Needles in the Proverbial Database Haystacks Researchers combed through more than 5,000 data sets of RNA sequences generated from diverse environmental samples around the world, resulting in a five-fold increase of RNA virus diversity. (doe.gov)
This process allowed for continued data collection and several months of validation on the stability and accuracy of the genetic predictions. (angus.org)
Producers should remember EPDs reflect only the current data included in the database. (angus.org)
By accommodating additional data on sample numbers and known false negative and false positive rates for the various lactase persistence phenotype tests (blood glucose and breath hydrogen), we also apply a Monte Carlo method to estimate the probability that known lactase persistence-associated allele frequencies can explain observed trait frequencies in different regions. (blogspot.com)
We have developed the dbVOR database, which is designed to hold data efficiently for both genome-wide and targeted experiments. (biomedcentral.com)
In addition, we store pedigree and phenotype data for our subjects. (biomedcentral.com)
The dbVOR database allows us to select subsets of the data by several different criteria and to merge their results into a coherent and consistent whole. (biomedcentral.com)
Managing and reconciling these multiple sources of data, often with different sample IDs, allele labels, and marker names, is best managed using a database system. (biomedcentral.com)
While several database systems have been developed for managing genetic data[ 1 - 7 ], when we tried some of these, we found that some relied on commercial database systems that were so complicated that they required a database administrator to routinely maintain and apply regular security updates. (biomedcentral.com)
We have created a series of programs and a database called, dbVOR , to store, manage, and retrieve genetic data. (biomedcentral.com)
The raw data flows into the database tables using one of several programs. (biomedcentral.com)
dbVOR usage: raw data is loaded into database tables by one of several programs. (biomedcentral.com)
The rest of this document is organized as follows: in the Implementation section, we first describe dbVOR 's ancillary database tables used to store pedigree, trait, and marker data. (biomedcentral.com)
A subsequent program is presented that extracts data from the database tables. (biomedcentral.com)
Dr Heidi Mattock and use genetic data to identify the etiology of human canceRs. (who.int)
This project aims at characterising metabolic changes in the asthma bronchial epithelium and how these relate to asthma phenotypes by employing predominantly transcriptome data from major databases (e.g. (lu.se)
Tasks: This project includes carrying out data integration, clustering and network analysis to define metabolic phenotypes in asthma. (lu.se)

Dr. Oakley and his team decided to use genetic screening, a classic genetic approach where random mutations in the genome of an organism are created using mutagens. (databasefootball.com)
Individuals reported with mutations in EP300 have a milder skeletal phenotype, lacking typical broadening and angulation of the thumb and hallux. (medscape.com)

To facilitate research on HD in a network-oriented manner, we have developed HDNetDB, a database that integrates molecular interactions with many HD-relevant datasets. (nature.com)
The Entrez system comprises 39 molecular and literature databases. (nih.gov)
The BioProject database is a searcheable collection of complete and incomplete (in-progress) large-scale molecular projects including genome sequencing and assembly, transcriptome, metagenomic, annotation, expression and mapping projects. (nih.gov)
Conserved Domains is a database of protein domains represented by sequence alignments and profiles for protein domains conserved in molecular evolution. (nih.gov)

The recent identification of independent nucleotide changes that are strongly associated with lactase persistence in different populations worldwide has led to the possibility of genetic tests for the trait. (blogspot.com)
One premise that has influenced forensic practice-figuring in discussions of both backward compatibility of SNP-based systems with the CODIS database and of genetic privacy-is that the information provided by the CODIS loci is completely distinct from the information provided by larger sets of single-nucleotide polymorphisms (SNPs). (rti.org)
Self-reported i nsomnia symptoms were instrumented by a genetic risk score (GRS) created from 129 single-nucleotide polymorphisms (SNPs). (biomedcentral.com)

Overall, the authors found the psychotic disorders (schizophrenia and bipolar disorder) to be more heritable than the cannabis phenotypes (lifetime cannabis use and cannabis use disorder). (asam.org)
Mendelian randomization techniques were used to estimate the causal relationship between psychotic disorders and cannabis phenotypes and found evidence of bidirectional causality. (asam.org)
The authors conclude that a shared genetic component is responsible for the link between psychotic disorders and cannabis use. (asam.org)
Identifying facial phenotypes of genetic disorders using deep learning. (cdc.gov)
To this end, preventive screening for genetic disorders, including developmental disabilities, is an essential component in uncovering possible disorders early, thus enabling timely medical intervention. (who.int)

The genomic features of K-2157 (e.g., sequence type, K locus, and mobile genetic elements) were retrieved using different bioinformatic tools. (bvsalud.org)
As a result, the linkage between the autoimmune experimental arthritis phenotype and the genomic region, that is, the quantitative trait locus, can cover several hundred genes. (medscape.com)

Forensic-genetic work in the United States relies largely on the CODIS markers, a set of 20 (until recently, 13) microsatellite loci in heavy use since the 1990s. (rti.org)
CDC wil continue to monitor XDR Shigella infections and track Shigel a isolates with unique or worrisome antimicrobial susceptibility patterns and genetic resistance markers. (cdc.gov)

We therefore introduce the reader to CRISPR-based screens in the related apicomplexan Toxoplasma gondii and discuss how these approaches could be adapted to develop CRISPR/Cas9 based genome-scale genetic screens in malaria parasites. (portlandpress.com)
New techniques have been developed that allow researchers to recreate genetic changes affecting human genes within the mouse genome. (charite.de)
A large, genome-wide association study has brought us further in our understanding of the shared genetic risk for cannabis use and psychotic illness ( The Lancet Psychiatry ) while a population-based cohort study from Denmark indicates cannabis use is associated with an increased risk for both psychotic and nonpsychotic bipolar and unipolar depression ( JAMA Psychiatry ). (asam.org)
Second, we will track the genetic basis of behaviour using a unique breeding population of zebra finches and benefitting from the recently obtained genome sequence of this species. (europa.eu)

A cardiomelic developmental field has also been postulated to relate the genetic heterogeneity of HOS (and other similar syndromes) to a cascade of molecules, including the brachyury, sonic hedgehog, bone morphogenetic protein, retinoic acid receptor, and transforming growth factor beta families. (medscape.com)

For a person with an undiagnosed, potentially genetic condition, exome sequencing may provide a definitive diagnosis where no other technology can. (cdc.gov)
Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics: Yield and Clinical Significance. (cdc.gov)

Accessible databases like ClinVar , which was launched by the National Institute of Health (NIH) in 2013, have emerged to aggregate genetic sequencing with acceptable results. (darkdaily.com)
A key challenge with a database like ClinVar is that different medical laboratories may interpret test outcomes in contrasting manners. (darkdaily.com)

Several experimental strategies are used to narrow these regions, and these attempts almost always are combined with the retrieval of potential candidate genes found in different databases. (medscape.com)

The database summarizes heritable traits and provides information on both the trait and experimentally determined genetic causes. (go.jp)
In collaboration with the Medical Imaging Group at the University of Surrey (HeadSpace project) we are applying a machine learning approach to the significant MRI morphometric traits to establish a simple objective measure that could be applied to future genetic and other studies and develop a medical image analysis software that can be used to screen susceptible breeding dogs and be translated into human studies. (surrey.ac.uk)
Initial research has shown both of these traits have a heritability estimate of 0.25, which is similar to weaning weight, meaning genetic selection for improvement of these traits can take place. (angus.org)

Interactions among genes together with their expression level determine a phenotype in a given organism. (embnet.org)

Metabolon's technology makes connections where other 'omics cannot and provides the definitive representation of the phenotype. (bio-itworld.com)

A new pro-gram, developed by researchers from Charité, Labor Berlin - Charité Vivantes GmbH, and MPI, combines the results of genetic testing with information from a symptoms database. (charite.de)
includes clinical symptoms and genetic information, which can link a patient's phenotype with his or her genotype [and help] develop precision medicines and complementary diagnostics. (genomeweb.com)

Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. (amrita.edu)

This is due to a paucity of functional annotation from sequence homology, which is compounded by low genetic tractability compared with many model organisms. (portlandpress.com)
precision of the clinical phenotype, with functional validation approaches using cellular and animal models. (igbmc.fr)

When available each record links to detailed diagrams and annotations for individual pathways on the Web sites of the source databases. (nih.gov)
By leveraging its proprietary metabolite database, Metabolon can decipher thousands of discrete chemical signals from genetic and non-genetic factors to reveal biological pathways. (bio-itworld.com)

However, the same matching can occur via adaptive plasticity, without requiring genetic differences among populations. (datadryad.org)
There is an immediate need to increase our understanding of the genetic basis for fitness differences in natural populations (Ellegren and Sheldon Nature 452:169-175, 2008). (europa.eu)
A nice paper that should serve as a cautionary tale against generalizing genotype-phenotype interactions discovered into some populations into new ones. (blogspot.com)
To provide greater confidence when inferring genetic effects of small population size, we have extended our analyses to experimental systems or natural populations with a known history of fragmentation. (lu.se)

Alarmingly, isolates displaying a convergence phenotype of carbapenem resistance and hypervirulence have been detected in several countries, representing a serious threat to public health. (bvsalud.org)

We used surface interpolation of Old World lactase persistence genotype and phenotype frequency estimates obtained from all available literature and perform a comparison between predicted and observed trait frequencies in continuous space. (blogspot.com)

Toxin/antitoxin (TA) systems are used primarily to inhibit phage, reduce metabolic activity during stress, and maintain genetic elements. (preprints.org)

They combine genetic approaches: identification of new genes and genetic mechanisms (WGS, WES, RNAseq. (igbmc.fr)

Silver Age of GOLD Introduces New Features The Genomes OnLine Database makes curated microbiome metadata that follows community standards freely available and enables large-scale comparative genomics analysis initiatives. (doe.gov)

Most of the platforms are expected to be connected to resources for handling various types of user interactions, conceivably with a back-end database management system and a front-end web based technique to handle user interactions. (lu.se)

Both CBP and EP300 interact with several cofactors (p/CAF, CITED1, CITED4), which can also be involved in Rubinstein-Taybi syndrome and would indicate further genetic heterogeneity. (medscape.com)

A multi-disciplinary database covering nearly every area of academic study. (rutgers.edu)
This study used several large genetic databases to identify genetic loci associated with schizophrenia, bipolar disorder, lifetime cannabis use, and cannabis use disorder. (asam.org)
The subject of the present study is the design of an environment in which microRNAs-drugs-phenotypes relationships can be deduced using more advanced network-based techniques. (embnet.org)
New insights on Noonan syndrome's clinical phenotype: a single center retrospective study. (cdc.gov)
Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study. (cdc.gov)
[ 2 ] RA has a very complex genetic basis, and the combination of genetic and environmental causative factors makes it hard to study. (medscape.com)

Rats are very useful for this purpose because autoimmune experimental arthritis phenotypes can be induced in susceptible strains by several agents, such as collagen, pristane, oil, streptococcal cell wall and even adjuvant alone. (medscape.com)

They established a large database of DNA linked to MRI findings and over the last decade have refined phenotypical analysis of affected dogs and their diagnostic MRI in parallel with advances in statistical genetic analysis. (surrey.ac.uk)
As dermatologists are often the first physicians to evaluate women with cutaneous features suggestive of PCOS, this detailed analysis of the cutaneous phenotype will be important information for the dermatology literature to better define the skin findings present in this patient population. (acneandrosacea.org)
Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy. (cdc.gov)

This clinic is staffed by a 12-person clinical and research team that actively manages a database with clinical, biochemical, morphometric, genetic, and psychological/ quality of life information about the UCSF PCOS cohort (approximately 300 patients). (acneandrosacea.org)

On the other hand modern studies have shown that genetic variations may affect drug response. (embnet.org)

Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes. (cdc.gov)

Results from field surveys, genetic analyses, stress-manipulation experiments and comparative studies of population structure indicate that several selection pressures, operating at both vegetative and reproductive stages, contribute to the maintenance of these pollen-color dimorphisms. (lu.se)

We believe that our insights help to better grasp the genetic and behavioral properties of such cooperative groups in general. (databasefootball.com)

The genetic contribution to RA susceptibility is estimated to be between 30% and 50%, of which the major histocompatibility complex accounts for about one-third. (medscape.com)

In addition, K-2157 harbored two plasmids: one of 113,644 bp (KPC+) and another of 230,602 bp, containing virulence genes, in addition to an integrative and conjugative element (ICE) embedded on its chromosome, revealing that the presence of these mobile genetic elements mediates the convergence between virulence and antibiotic resistance. (bvsalud.org)

Defective development of the embryonic radial ray (eg, aplasia, hypoplasia, fusion, other anomalous development) results in a wide spectrum of phenotypes, including triphalangeal or absent thumbs, foreshortened arms, and phocomelia. (medscape.com)

development and transfer of diagnostic tools (databases, GenoDENT NGS Panel, virtual expert AI for diagnostic assistance. (igbmc.fr)

Anatomy9

Organisms14

Diseases9

Chemicals and Drugs30

Analytical, Diagnostic and Therapeutic Techniques and Equipment51

Phenomena and Processes83

Disciplines and Occupations11

Anthropology, Education, Sociology and Social Phenomena1

Technology, Industry, Agriculture1

Information Science60

Named Groups1

Health Care24

Geographicals3

Genotypes6

Gene23

Humans4

Variation11

Correlation2

Variants10

Ontology5

Multiple phenotypes2

Biomedical4

Phenotypic5

Genotype data1

Diseases12

Disease11

OMIM3

Chromosomal1

Bioinformatics3

Data30

Mutations2

Molecular4

Nucleotide3

Disorders5

Genomic2

Markers2

Genome4

Developmental1

Diagnosis2

ClinVar2

Candidate genes1

Traits3

Organism1

Representation1

Symptoms2

Consistent1

Functional2

Pathways2

Populations4

Isolates1

Trait1

Metabolic1

Genes and genetic1

Metadata1

Interactions1

Heterogeneity1

Study6

Experimental1

Analysis3

Biochemical1

Variations1

Patients1

Studies1

Insights1

Susceptibility1

Resistance1

Spectrum1

Diagnostic1