Using high-resolution variant frequencies to empower clinical genome interpretation.
about
ClinVar data parsingSweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.Exploiting ion channel structure to assess rare variant pathogenicity.Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.Integrative omics for health and disease.Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.Genetic Etiology for Alcohol-Induced Cardiac Toxicity.ClinGen's RASopathy Expert Panel consensus methods for variant interpretationIncomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exonsExpert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossUpdated recommendation for the benign stand-alone ACMG/AMP criterionSpecifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variantsMultiplex assessment of protein variant abundance by massively parallel sequencingIdentification of Misclassified ClinVar Variants via Disease Population Prevalence
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P2860
Using high-resolution variant frequencies to empower clinical genome interpretation.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
Using high-resolution variant frequencies to empower clinical genome interpretation.
@en
Using high-resolution variant frequencies to empower clinical genome interpretation.
@nl
type
label
Using high-resolution variant frequencies to empower clinical genome interpretation.
@en
Using high-resolution variant frequencies to empower clinical genome interpretation.
@nl
prefLabel
Using high-resolution variant frequencies to empower clinical genome interpretation.
@en
Using high-resolution variant frequencies to empower clinical genome interpretation.
@nl
P2093
P2860
P50
P356
P1433
P1476
Using high-resolution variant frequencies to empower clinical genome interpretation
@en
P2093
Alexander Y Ing
Birgit Funke
Daniel MacArthur
Eric Minikel
Konrad Karczewski
Nicola Whiffin
Stuart A Cook
P2860
P2888
P304
P356
10.1038/GIM.2017.26
P407
P577
2017-05-18T00:00:00Z
P6179
1085435205