November 5, 2020

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

Authors:

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

University of Washington affiliated authors are displayed in bold.

✪ Open Access

Published: November 2020

Read the full text in the open access American Journal of Human Genetics