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

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...

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Udgivet i:Am J Hum Genet
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2020
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7675005/
https://ncbi.nlm.nih.gov/pubmed/33108757
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.09.011
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