Ontology highlight
ABSTRACT:
SUBMITTER: Amendola LM
PROVIDER: S-EPMC7675005 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Amendola Laura M LM Muenzen Kathleen K Biesecker Leslie G LG Bowling Kevin M KM Cooper Greg M GM Dorschner Michael O MO Driscoll Catherine C Foreman Ann Katherine M AKM Golden-Grant Katie K Greally John M JM Hindorff Lucia L Kanavy Dona D Jobanputra Vaidehi V Johnston Jennifer J JJ Kenny Eimear E EE McNulty Shannon S Murali Priyanka P Ou Jeffrey J Powell Bradford C BC Rehm Heidi L HL Rolf Bradley B Roman Tamara S TS Van Ziffle Jessica J Guha Saurav S Abhyankar Avinash A Crosslin David D Venner Eric E Yuan Bo B Zouk Hana H Jarvik Gail P GP
American journal of human genetics 20201026 5
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 sources of discordance in classification. Eight laboratories each submitted 20 class ...[more]