Inferring causality and functional significance of human coding DNA variants.
about
Rare-variant association analysis: study designs and statistical testsNew insights into the generation and role of de novo mutations in health and diseaseWidespread macromolecular interaction perturbations in human genetic disordersStructMAn: annotation of single-nucleotide polymorphisms in the structural contextThe implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experienceRare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetesIdentification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autismEvolutionary Diagnosis of non-synonymous variants involved in differential drug response.Rare Variants Association Analysis in Large-Scale Sequencing Studies at the Single Locus LevelA genetic study of Wilson's disease in the United KingdomEvolutionary balancing is critical for correctly forecasting disease-associated amino acid variants.Long runs of homozygosity are enriched for deleterious variation.Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.A Molecular Evolutionary Reference for the Human VariomeGenotype to phenotype via network analysis.Searching for missing heritability: designing rare variant association studies.Large-scale mass spectrometric detection of variant peptides resulting from nonsynonymous nucleotide differencesChip-based direct genotyping of coding variants in genome wide association studies: utility, issues and prospectsGNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.Implementation of Functional Genomics for Bench-to-Bedside Transition in Osteoarthritis.Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence.Lessons learned from gene identification studies in Mendelian epilepsy disorders.Discovery of rare variants for complex phenotypes.The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions.Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.
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P2860
Inferring causality and functional significance of human coding DNA variants.
description
article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
Inferring causality and functional significance of human coding DNA variants.
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type
label
Inferring causality and functional significance of human coding DNA variants.
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prefLabel
Inferring causality and functional significance of human coding DNA variants.
@en
P2860
P356
P1476
Inferring causality and functional significance of human coding DNA variants.
@en
P2093
Shamil R Sunyaev
P2860
P356
10.1093/HMG/DDS385
P577
2012-09-17T00:00:00Z