Can the impact of human genetic variations be predicted?
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Human RAG mutations: biochemistry and clinical implicationsGlobal inference of disease-causing single nucleotide variants from exome sequencing dataIntegrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.The human gene damage index as a gene-level approach to prioritizing exome variants.Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.Predicting phenotype from genotype: Improving accuracy through more robust experimental and computational modeling.Exome and genome sequencing for inborn errors of immunity.Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermiaAlanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.Capturing the biology of disease severity in a PSC-based model of familial dysautonomiaThe mutation significance cutoff: gene-level thresholds for variant predictionsA common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number.MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants.Human genetics of infectious diseases: Unique insights into immunological redundancy.Re-evaluating pathogenicity of variants associated with the long QT syndrome.Understanding the disease genome: gene essentiality and the interplay of selection, recombination and mutation.
P2860
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P2860
Can the impact of human genetic variations be predicted?
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Can the impact of human genetic variations be predicted?
@ast
Can the impact of human genetic variations be predicted?
@en
type
label
Can the impact of human genetic variations be predicted?
@ast
Can the impact of human genetic variations be predicted?
@en
prefLabel
Can the impact of human genetic variations be predicted?
@ast
Can the impact of human genetic variations be predicted?
@en
P2860
P356
P1476
Can the impact of human genetic variations be predicted?
@en
P2093
Yuval Itan
P2860
P304
11426-11427
P356
10.1073/PNAS.1515057112
P407
P577
2015-09-08T00:00:00Z