Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

doi:10.1016/j.ajhg.2020.09.011

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Article

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

American journal of human genetics - 5 Nov 2020

Amendola Laura M, Muenzen Kathleen, Biesecker Leslie G, Bowling Kevin M, Cooper Greg M, Dorschner Michael O, Driscoll Catherine, Foreman Ann Katherine M, Golden-Grant Katie, Greally John M, Hindorff Lucia, Kanavy Dona, Jobanputra Vaidehi, Johnston Jennifer J, Kenny Eimear E, McNulty Shannon, Murali Priyanka, Ou Jeffrey, Powell Bradford C, Rehm Heidi L, Rolf Bradley, Roman Tamara S, Van Ziffle Jessica, Guha Saurav, Abhyankar Avinash, Crosslin David, Venner Eric, Yuan Bo, Zouk Hana, Jarvik Gail P

Abstract excerpt

Harmonization of variant pathogenicity classification across laboratories is important for advancing clinical genomics. The two CLIA-accredited Electronic Medical Record and Genomics Network sequencing centers and the six CLIA-accredited laboratories and one research laboratory performing genome or exome sequencing in the Clinical Sequencing Evidence-Generating Research Consortium collaborated to explore current...

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PMID: 33108757
DOI: 10.1016/j.ajhg.2020.09.011
PMCID: PMC7675005

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