Evolutionary diagnosis method for variants in personal exomes.
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Exome sequencing reveals new causal mutations in children with epileptic encephalopathiesA Gene Gravity Model for the Evolution of Cancer Genomes: A Study of 3,000 Cancer Genomes across 9 Cancer TypesA phylomedicine approach to understanding the evolution of auditory sensory perception and disease in mammalsConformational dynamics of nonsynonymous variants at protein interfaces reveals disease association.DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indelsA comprehensive study of small non-frameshift insertions/deletions in proteins and prediction of their phenotypic effects by a machine learning method (KD4i).Studying tumorigenesis through network evolution and somatic mutational perturbations in the cancer interactomeBiased gene conversion skews allele frequencies in human populations, increasing the disease burden of recessive allelesGermline mutations in MAP3K6 are associated with familial gastric cancerLarge-scale polymorphism discovery in macaque G-protein coupled receptors.Evolutionary Diagnosis of non-synonymous variants involved in differential drug response.Unifying immunology with informatics and multiscale biology.Problems with the nested granularity of feature domains in bioinformatics: the eXtasy case.Whole-genome sequencing of the snub-nosed monkey provides insights into folivory and evolutionary history.Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case.e-GRASP: an integrated evolutionary and GRASP resource for exploring disease associationsUsing Disease-Associated Coding Sequence Variation to Investigate Functional Compensation by Human Paralogous Proteins.Evolutionary balancing is critical for correctly forecasting disease-associated amino acid variants.A Molecular Evolutionary Reference for the Human VariomeMEGA-MD: molecular evolutionary genetics analysis software with mutational diagnosis of amino acid variation.Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools.KinView: a visual comparative sequence analysis tool for integrated kinome research.Integration of structural dynamics and molecular evolution via protein interaction networks: a new era in genomic medicine.Computational approaches for predicting mutant protein stability.VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files.Evolution-informed modeling improves outcome prediction for cancers.Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signalingPredictor performance with stratified data and imbalanced classes.Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.Europeans have a higher proportion of high‑frequency deleterious variants than Africans.Proper reporting of predictor performance
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Evolutionary diagnosis method for variants in personal exomes.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on September 2012
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Evolutionary diagnosis method for variants in personal exomes.
@en
Evolutionary diagnosis method for variants in personal exomes.
@nl
type
label
Evolutionary diagnosis method for variants in personal exomes.
@en
Evolutionary diagnosis method for variants in personal exomes.
@nl
prefLabel
Evolutionary diagnosis method for variants in personal exomes.
@en
Evolutionary diagnosis method for variants in personal exomes.
@nl
P2093
P2860
P356
P1433
P1476
Evolutionary diagnosis method for variants in personal exomes.
@en
P2093
Jieping Ye
Maxwell Sanderford
P2860
P2888
P304
P356
10.1038/NMETH.2147
P577
2012-09-01T00:00:00Z
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P6179
1046547124