Using high-resolution variant frequencies to empower clinical genome interpretation. - Wikidata - wikimedia - TriplyDB

Using high-resolution variant frequencies to empower clinical genome interpretation.

Using high-resolution variant frequencies to empower clinical genome interpretation.

http://www.wikidata.org/entity/Q42347660

about

ClinVar data parsing SweGen: 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 interpretation Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss Updated recommendation for the benign stand-alone ACMG/AMP criterion Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants Multiplex assessment of protein variant abundance by massively parallel sequencing Identification of Misclassified ClinVar Variants via Disease Population Prevalence

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P2860

Using high-resolution variant frequencies to empower clinical genome interpretation.

http://www.wikidata.org/entity/Q42347660

description

2017 nî lūn-bûn

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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.

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prefLabel

Using high-resolution variant frequencies to empower clinical genome interpretation.

@en

Using high-resolution variant frequencies to empower clinical genome interpretation.

@nl

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Genetics in Medicine

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Using high-resolution variant frequencies to empower clinical genome interpretation

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Alexander Y Ing

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Birgit Funke

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Daniel MacArthur

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Eric Minikel

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Konrad Karczewski

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Nicola Whiffin

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Stuart A Cook

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P2860

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.

Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes.

Marfan's syndrome

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test

Analysis of protein-coding genetic variation in 60,706 humans

Diagnosis and management of primary ciliary dyskinesia

Noonan syndrome

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

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1151-1158

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scholarly article

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10.1038/GIM.2017.26

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Anne H O'Donnell-Luria

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2017-05-18T00:00:00Z

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1085435205

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