Phenotype of genetic. Medical search. Frequent questions

Increasingly, logistic regression methods for genetic association studies of binary phenotypes must be able to accommodate data sparsity, which arises from unbalanced case-control ratios and/or rare genetic variants. (karger.com)
Autosomal genetic variance is enriched for common variants and regions of lower linkage disequilibrium. (nature.com)
Here we resequence the mitochondrial genomes of 169 Drosophila Genetic Reference Panel lines, identifying 231 variants that stratify along 12 mitochondrial haplotypes. (ista.ac.at)
Genetic Association Analysis Reveals Differences in the Contribution of NOD2 Variants to the Clinical Phenotypes of Orofacial Granulomatosis. (qxmd.com)
We investigated whether genetic variants associated with an increased risk of CD, sarcoidosis, or atopy were also associated with susceptibility to OFG. (qxmd.com)
Our findings suggest that genetic variants in NOD2 are only associated with OFG in patients with concurrent intestinal disease. (qxmd.com)
Investigations have revealed hundreds of genetic variants that influence body weight , and because genes are passed from parents to children, this means that there is an inherited component to obesity. (eatingdisorderhope.com)
Regarding genes and obesity, you can inherit any number of genetic variants that could contribute to weight gain , but whether you actually develop obesity will, in most cases, depend on a myriad of other factors. (eatingdisorderhope.com)
Background: Long QT syndrome (LQTS) genetic test reports commonly exclude potentially proarrhythmic common variants such as p.Asp85Asn-KCNE1. (elsevierpure.com)
Objective: The purpose of this study was to determine whether a discernible phenotype is associated with p.Asp85Asn-KCNE1 and whether relatively common KCNE1 variants underlie transient QT prolongation pedigrees with negative commercial LQTS genetic tests. (elsevierpure.com)
Methods: Retrospective review was used to compare demographics, symptomatology, and QT parameters of individuals with p.Asp85Asn-KCNE1 in the absence of other rare/ultra-rare variants in LQTS-susceptibility genes and those who underwent comprehensive LQTS genetic testing. (elsevierpure.com)
Conclusion: We provide further evidence that relatively common variants in KCNE1 may result in a mild QT phenotype designated as "LQT5-Lite" to distinguish such potentially proarrhythmic common variants (ie, functional risk alleles) from rare pathogenic variants that truly confer monogenic disease susceptibility, albeit with incomplete penetrance. (elsevierpure.com)
Genetic variants were biochemically characterised. (bmj.com)
Functional analysis revealed impaired PP2A A/C-subunit binding, decreased short linear interaction motif-dependent substrate binding or both-with the most severe phenotypes associated with variants that completely retained one of these binding characteristics and lost the other-further supporting a dominant-negative disease mechanism. (bmj.com)
Limited information on phenotypes attributable to RAD21 variants and genotype-phenotype relationships is currently published. (springer.com)
Their phenotype is an attenuated CdLS phenotype compared to that caused by variants in NIPBL or SMC1A for facial morphology, limb anomalies, and especially for cognition and behavior. (springer.com)
In the 20 individuals with limited clinical information, additional phenotypes include Mungan syndrome (in patients with biallelic variants) and holoprosencephaly, with or without CdLS characteristics. (springer.com)
Variants were frequently familial, and genotype-phenotype analyses demonstrated striking interfamilial and intrafamilial variability. (springer.com)
As a result of thousands of genome-wide association studies (GWAS), we know now that common sequence variants contribute to complex human health phenotypes (e.g., blood pressure and lipid levels), and common diseases (e.g. cancer and heart disease). (cdc.gov)
A brief review considered selected genetic variants and associated diseases such as red blood cell traits and predisposure to acute hemolytic anemia for persons with glucose-6-dehydrogenase deficiency, the occurrence of sickle cell anemia in individuals having a specific change in the amino acid structure of the peptide chains of hemoglobin, and the occurrence of thalassemia major due to a genetic defect in the rate of hemoglobin synthesis. (cdc.gov)
Genetic variants (specific mutations or allelles of genes) and their corresponding phenotypic variations in the trait or the disease which the genes controls. (bvsalud.org)
Genetic variants robustly linked to these body shapes were extracted from a previous genome-wide association study. (who.int)
Summary statistics for these genetic variants were obtained from 133 384 cases and 113 789 controls of European descent in the Breast Cancer Association Consortium and combined in a two-sample Mendelian randomization analysis to investigate associations with breast cancer risk. (who.int)
This inverse association is probably because the genetic variants that predict this body shape reflect body fatness during childhood and adolescence rather than during later adulthood, when it has been shown that an adipose body shape increases the risk of breast cancer and other cancer types. (who.int)

Moreover, when a candidate gene or genomic region is responsible for the variation of both bone phenotypes and anthropometric indices, its true genetic effect on the bone phenotypes may be lost after one has adjusted the phenotypic values with weight and height as random environmental factors. (nih.gov)
Stay completely up-to-date on the RII Track-2 FEC: Using Biophysical Protein Models to Map Genetic Variation to Phenotypes (National Science Foundation award OIA-1736253) via the Genotypes to Phenotypes website . (uidaho.edu)
Phenotypic variation (due to underlying heritable genetic variation) is a fundamental prerequisite for evolution by natural selection. (wikipedia.org)
OBJECTIVES: The aim of this study was to assess if genetic variation in the PACE4 (paired amino acid converting enzyme 4) gene Pcsk6 influences the risk for symptomatic knee osteoarthritis (OA). (ox.ac.uk)
Greater availability of African genomes will improve our understanding of the role of genomic variation in genetic diseases and common complex diseases in all populations. (cdc.gov)

The methodological hypothesis for the project is that a biophysics-first framework can be applied to diverse experimental systems to reveal general underlying principles of genotype to phenotype mapping, uncover gaps in understanding, and suggest potential generic and system-specific extensions. (uidaho.edu)
In years 2-4, lessons from Objectives 1 and 2 will be applied to other model systems (Objective 3), to consideration of larger, naturally-selected, mutational combinations (Objective 4), and to the role of the environment in modifying genotype to phenotype mappings (Objective 5). (uidaho.edu)
Deep data analytics for genetic engineering of diatoms linking genotype to phenotype via machine learning. (ornl.gov)

Understanding how genotypes map to organismal phenotypes is one of the great unsolved problems in modern biology. (uidaho.edu)
This research is built on the principle that the biophysical properties of proteins represent general, computationally-predictable intermediaries for mapping genotypes to phenotypes. (uidaho.edu)
The research will identify generic and system-specific lessons about the mapping of genotypes to phenotypes, such as how often do biophysical and higher-level phenotypes show epistasis and how well can models predict deviations from additivity. (uidaho.edu)
N x 1] Vector of length [N] samples with genotypes of a single bi-allelic genetic variant/SNP encoded as 0,1 and 2. (rdrr.io)
Information is lacking about the benefits and risks of genetic testing, the efficacy of early interventions, and the population distribution of genotypes and other risk factors associated with disease conditions. (cdc.gov)

Association tests accounting for population structure and familial relatedness are consistent with a proposed model where these alleles are in linkage disequilibrium with a mutation or mutations that contribute to the BEW phenotype and to individual differences in fleece color. (datadryad.org)
However, treatment developed using these new technologies may only be effective for specific genetic mutations eg. (acnr.co.uk)
A. With these findings we communicate the first Chinese SEPSECS mutant case, and our report indicates that SEPSECS mutations can give rise to a milder phenotype. (frontiersin.org)
The biallelic deletion of Trsp in mice (which impedes selenoprotein synthesis) resulted in cerebellar hypoplasia, seizure, and developmental delay ( 4 )-phenotypes that are congruent with those described in previous clinical reports of SEPSECS mutations ( 5 - 11 ). (frontiersin.org)
We hereby report on a mild phenotype without progressive microcephaly and brain atrophy up to 3 years of age in a Chinese pediatric patient who harbored biallelic SEPSECS mutations. (frontiersin.org)
The central scientific hypothesis for the project is that protein biophysical models provide an efficient framework for predicting how mutations - alone, in combination, and in different environments -influence protein stability, affinity for substrates and partners, and the mappings to higher-level phenotypes. (uidaho.edu)
The objectives during the first 1.5 years are to investigate how single mutations (Objective 1), and combinations of mutations (Objective 2), affect biophysical phenotypes and their mappings to higher-level phenotypes. (uidaho.edu)
To the team's knowledge, this is the first attempt to test the ability of protein models to predict how mutations affect biophysical and higher-level phenotypes across such a broad range of systems. (uidaho.edu)
Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)

These results suggest the probability that the same genetic and environmental factors contribute to these different phenotypes. (nih.gov)
When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. (wikipedia.org)

Behavioral phenotypes include cognitive, personality, and behavioral patterns. (wikipedia.org)
Some behavioral phenotypes may characterize psychiatric disorders or syndromes. (wikipedia.org)

The fi rst 2 groups mark strategies, we characterized a total of 2,261 Mycobacterium irreversible genetic events and can be used to construct phy- tuberculosis complex isolates by using multiple phenotypic logenies for M. tuberculosis ( 2 - 6 ). (cdc.gov)
Background: We examined how expanding electrocardiographic trait genome-wide association studies to include ancestrally diverse populations, prioritize more precise phenotypic measures, and evaluate evidence for shared genetic effects enabled the detection and characterization of loci. (elsevierpure.com)
From my point of view, the key innovations include a diagnostic workup that starts with a detailed phenotypic description, including the new phenotype of nondilated left ventricular cardiomyopathy, that then triggers a multiparametric, systematic evaluation," said Kaski, co-chair of the task force. (medscape.com)

In genetics, the phenotype (from Ancient Greek φαίνω (phaínō) 'to appear, show', and τύπος (túpos) 'mark, type') is the set of observable characteristics or traits of an organism. (wikipedia.org)
Either way, the term phenotype includes inherent traits or characteristics that are observable or traits that can be made visible by some technical procedure. (wikipedia.org)
Evidence of shared genetic effects was evaluated by aggregating meta-analyzed univariate results across the 6 continuous electrocardiographic traits using the combined phenotype adaptive sum of powered scores test. (elsevierpure.com)
Genotype refers to the genetic makeup of the cells in the body, the actual biological traits that are inherited. (eatingdisorderhope.com)
The possibilities of screening workers for genetic traits that may place them at unusual risk in the work environment or evaluating genetic material from workers for evidence of the adverse effects of occupational exposures were considered. (cdc.gov)
Genetic traits associated with lung diseases include increased aryl- hydrocarbon-hydrolase activity associated with bronchogenic carcinoma, and alpha-1-antitrypsin deficiency associated with obstructive pulmonary disease, particularly emphysema. (cdc.gov)

The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation in COL2A1. (nih.gov)
These results formally establish causal association of biallelic COQ5 mutation with pathology , outline a core COQ5-linked phenotype , and identify mRNA mis-splicing as the molecular mechanism underlying all COQ5 variant-linked pathology to date. (bvsalud.org)

The genetic and environmental correlations between the bone phenotypes and anthropometric indices in Chinese subjects were studied by bivariate quantitative genetic analysis on a sample of 931 healthy subjects from 292 Chinese nuclear families aged from 19 to 79 years. (nih.gov)
We identify plausible genetic correlations between MPB and multiple sex-limited markers of earlier puberty, increased bone mineral density ( r g = 0.15) and pancreatic β-cell function ( r g = 0.12). (nature.com)
Conclusion Our study delineates the most common features of PPP2R5D -related neurodevelopmental disorders, expands the clinical and molecular spectrum and identifies genotype-phenotype correlations. (bmj.com)

METHODS: As renal phenotype can be influenced by genetic background, we generated congenic C57BL/6 and FVB/N Ctns(-/-) mice and assayed renal lesions and function by histological and biochemical studies. (cnrs.fr)
In addition to highlighting the influence of genetic background on phenotype, the C57BL/6 Ctns(-/-) mice represent a useful model for further understanding cystinosin function in the kidney and, specifically, in the proximal tubules. (cnrs.fr)

It may have implications for population studies of candidate genes that underlie the complex bone phenotypes and for the development of strategies for therapeutic application. (nih.gov)
The candidate region of genes on chromosome 21 affecting cerebellar development in DS is therefore delimited to the subset of genes whose orthologs are at dosage imbalance in Ts65Dn mice, providing the first localization of genes affecting a neuroanatomical phenotype in DS. (johnshopkins.edu)

This study investigated the relationships between haplotypes of the ARVCF gene and specific intermediate phenotypes in schizophrenia. (psychiatrist.com)
Conclusions: These findings are consistent with known ARVCF gene effects on neurodevelopment in terms of cellular arrangement, migration, and intracellular signaling involving the striatum and may involve interactions with other brain networks such as prefrontal cortex, and they underscore the importance of imaging-genetic studies to elucidate the genetic influences underlying intermediate phenotypes in complex neurobehavioral disorders. (psychiatrist.com)
Breeders hypothesize that the BEW phenotype in alpacas is caused by the combination of the gene causing grey fleece and a white-spotting gene. (datadryad.org)
Humans have a long history of genetic adaptation that favors the storage of fat, drive to consume tasty, energy-dense foods, and restoration of body weight after weight loss - often referred to as the "Thrifty Gene" which promoted survival of the species. (eatingdisorderhope.com)
His bestselling books include The Selfish Gene (1976), The Extended Phenotype (1982) and its sequel The Blind Watchmaker (1986), River Out of Eden (1995), Climbing Mount Improbable (1996), Unweaving the Rainbow (1998), A Devil's Chaplain (2004), The Ancestor's Tale (2004), and The God Delusion (2007). (buecher.de)
Genetically inherited forms arise from defects of parathyroid gland development, defects in the parathyroid hormone (PTH) gene, defects in the calcium-sensing receptor gene, defects in PTH action, defects in the autoimmune regulator gene, and genetic syndromes. (medscape.com)
The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease. (bvsalud.org)

Rare genetic and genomic syndromes have provided insights into the molecular, cellular and circuit changes that underlie autism and associated developmental delay syndromes. (biomedcentral.com)
With the existence of large, well-characterized sample sets and the explosion of high-throughput methods in genetics there are numerous new genetic and genomic disorders that are being identified in autism. (biomedcentral.com)
Human genetic and genomic studies have supported a strong causal role of SHANK3 deficiency in autism spectrum disorder (ASD). (biomedcentral.com)

Other selected metabolic polymorphisms associated with diseases included slow acetylator phenotype, microsomal oxidizing systems, and paraoxonase deficiency. (cdc.gov)

A genome-wide association scan is needed to fully define the genetic architecture of OFG. (qxmd.com)
Conclusions: Despite including one-third as many participants as published electrocardiographic trait genome-wide association studies, our study identified 6 novel loci, emphasizing the importance of ancestral diversity and phenotype resolution in this era of ever-growing genome-wide association studies. (elsevierpure.com)

We hypothesized that "autoimmune encephalitides" may result from any brain inflammation concurring with the presence of brain antigen-directed autoantibodies, e.g., against N-methyl-D-aspartate-receptor NR1 (NMDAR1-AB), which are not causal of, but may considerably shape the encephalitis phenotype. (nature.com)
Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism. (bvsalud.org)

Mitochondrial haplotypes affect metabolic phenotypes in the Drosophila Genetic Reference Panel," Nature Metabolism , vol. 1, no. 12. (ista.ac.at)

However, it is still unknown what proportion of genetic and environmental variability is shared between these anthropometric characteristics and the bone phenotypes. (nih.gov)
Behaviors and their consequences are also phenotypes, since behaviors are observable characteristics. (wikipedia.org)

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)

We have considered cardiomyopathies across the life course from pediatric to adult," explained Elena Arbelo, MD, PhD, coordinator of the Cardiac Genetic Diseases and Sudden Arrhythmic Death Unit, Hospital Clinic de Barcelona, Spain. (medscape.com)
Implementing large scale studies across different populations could substantially enhance efforts to uncover the role of genetic factors in various diseases. (cdc.gov)
Screening tests for certain genetic diseases among newborn infants (i.e., those aged less than or equal to 1 month) currently are widely accepted and used. (cdc.gov)

Although harboring different mutant alleles, patients presented remarkably similar phenotypes typified by an autosomal recessive progressive microcephaly with profound developmental delay, progressive brain atrophy, and hypotonia ( 6 , 7 , 9 ). (frontiersin.org)
Autosomal dominant is a pattern of inheritance characteristic of some genetic disorders. (genome.gov)
Huntington's disease is an example of an autosomal dominant genetic disorder. (genome.gov)
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. (genome.gov)
Sickle cell anemia is an example of an autosomal recessive genetic disorder. (genome.gov)

The application of this model for analysis of developmental perturbations is extended by the accurate prediction of DS cerebellar phenotypes. (johnshopkins.edu)

And if we become sick, the disease phenotype (what we refer to as symptoms) captures the differences from our healthy baseline. (jax.org)
Subsequently, we comprehensively described patient 's clinical features as compared to phenotype and symptoms of other known congenital coenzyme Q5-linked cases. (bvsalud.org)
Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions. (medlineplus.gov)

Although mitochondrial haplotypes have no direct impact on mitochondrial respiration, some haplotypes are associated with stress- and metabolism-related phenotypes, including food intake in males. (ista.ac.at)
Together, our findings provide new insight into population structure at the mitochondrial level and point to the importance of incorporating mitochondrial haplotypes in genotype-phenotype relationship studies. (ista.ac.at)

In 2009, a research team demonstrated the feasibility of identifying genotype-phenotype associations using electronic health records (EHRs) linked to DNA biobanks. (wikipedia.org)
Genetic regulators of sputum mucin concentration and their associations with COPD phenotypes. (nygenome.org)

It can have multiple complex etiologies, including genetic predisposition, heart muscle injury due to disease, or a mix of participating factors. (medscape.com)

Another team of researchers characterize "the human phenome [as] a multidimensional search space with several neurobiological levels, spanning the proteome, cellular systems (e.g., signaling pathways), neural systems and cognitive and behavioural phenotypes. (wikipedia.org)

A codon is a DNA or RNA sequence of three nucleotides (a trinucleotide) that forms a unit of genetic information encoding a particular amino acid. (genome.gov)

A widely unexplored field in humans, though clearly documented in rodents, is genetic brain inflammation, particularly that associated with myelin abnormalities, inducing primary white matter encephalitis. (nature.com)

Results: although the prevalence of individuals presenting hyperdivergent facial phenotype in the USA population (since no Brazilian epidemiologic is available) is considerably low, diagnosis and treatment are challenging. (bvsalud.org)

Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. (biomedcentral.com)

We describe several additional cases with phenotypes including sclerocornea, in which involvement of the RAD21 variant is uncertain. (springer.com)

Combined phenotype testing did not identify novel electrocardiographic loci unapparent using traditional univariate approaches, although this approach did assist with the characterization of known loci. (elsevierpure.com)

As explained in the introduction to the guideline and reiterated by both Arbelo and Kaski, the guidelines have been organized around the patient pathway, meaning that focus should be placed on recognizing the presenting phenotype as a critical first step in discerning the underlying etiology and its treatments. (medscape.com)

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)

Variations in the degree of mosaicism between tissues explained the phenotype. (lu.se)

Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic d. (biomedcentral.com)

Polymorphism levels of markers used to test association of markers with the blue-eyed white phenotype. (datadryad.org)

Increasing the amount and accessibility of computable data across systems supports better disease analysis by integrating genotype, phenotype and other data to further develop precision health. (jax.org)
Routine genetic analysis for CHI was normal in the blood and resected pancreatic tissue. (lu.se)
The body shape phenotypes were derived from height, weight, body mass index, waist and hip circumference, and waist-to-hip ratio by a principal component analysis. (who.int)

A role for PACE4 in osteoarthritis pain: evidence from human genetic association and null mutant phenotype. (ox.ac.uk)
In a new study, scientists from the International Agency for Research on Cancer (IARC) and partner institutions investigate the association between three distinct body shape phenotypes and breast cancer risk. (who.int)

Details can be found in our paper Efficient Phenotype Evaluation in Cartesian Genetic Programming presented at EuroGP 2012. (vutbr.cz)
It should be "considered" during follow-up and for many other applications, including the evaluation of "genotype-positive but phenotype-negative relatives," she added. (medscape.com)

Height and weight are often used in population studies to adjust the bone phenotypes. (nih.gov)
The link between phenotype and socioeconomic status is also evident within the Mexican-origin population in the United States and Mexico. (encyclopedia.com)
As a consequence of racial intermixture during the colonial era, phenotype in the contemporary Mexican-origin population ranges on a continuum from those who appear white to those who have dark skin, indigenous facial features, and shorter height than average. (encyclopedia.com)

A number of studies show that autoimmune thyroiditis is a genetic disorder, but the best study was done in beagles and published by Benjamin et al . (vin.com)
Attention Deficit/ hyperactivity Disorder (ADHD): Complex Phenotype, Simple Genotype. (bvsalud.org)

Goal: the goal of the paper is to inform orthodontic professionals about the challenges to diagnose and to treat patients presenting hyperdivergent facial phenotype. (bvsalud.org)
Conclusion: settling of the hyperdivergent facial phenotype is complex and multifactorial. (bvsalud.org)

Anatomy29

Organisms19

Diseases13

Chemicals and Drugs51

Analytical, Diagnostic and Therapeutic Techniques and Equipment44

Psychiatry and Psychology2

Phenomena and Processes104

Disciplines and Occupations1

Information Science4

Health Care6

Variants24

Variation5

Genotype to phenotype3

Genotypes5

Mutations9

Different phenotypes2

Behavioral phenotypes2

Phenotypic3

Traits6

Mutation2

Correlations3

C57BL2

Genes2

Gene7

Genomic3

Acetylator1

Genome-wide2

Causal2

Metabolic1

Characteristics2

Syndromes1

Diseases3

Autosomal5

Cerebellar1

Symptoms3

Haplotypes2

Associations2

Predisposition1

Cognitive1

Nucleotides1

Humans1

Individuals1

Developmental1

Variant1

Characterization1

Patient1

Spectrum1

Variations1

Mosaicism1

Markers1

Analysis3

Association2

Evaluation2

Population3

Disorder2

Facial2