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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Publié dans:Am J Hum Genet
Auteurs principaux: 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
Langue:Inglês
Publié: Elsevier 2020
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Article
Accès en ligne: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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