The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.
about
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.A variant by any name: quantifying annotation discordance across tools and clinical databasesData sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.The current state of clinical interpretation of sequence variants.Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.Ethical considerations surrounding germline next-generation sequencing of children with cancer.Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals.Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
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P2860
The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.
description
2015 nî lūn-bûn
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2015 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
The challenge of comprehensive ...... between clinical laboratories.
@ast
The challenge of comprehensive ...... between clinical laboratories.
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type
label
The challenge of comprehensive ...... between clinical laboratories.
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The challenge of comprehensive ...... between clinical laboratories.
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prefLabel
The challenge of comprehensive ...... between clinical laboratories.
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The challenge of comprehensive ...... between clinical laboratories.
@en
P2093
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The challenge of comprehensive ...... between clinical laboratories
@en
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Dru Leistritz-Kessler
Mitzi L Murray
Samuel Bailey
Ulrike Schwarze
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10.1038/GIM.2015.31
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P577
2015-04-02T00:00:00Z
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2011752663