Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies
Laura M. Amendola, Kathleen Muenzen, Leslie G. Biesecker, Kevin M. Bowling, Gregory M. Cooper, Michael O. Dorschner, Catherine C. Driscoll, Ann Katherine M. Foreman, Katie Golden‐Grant, John M. Greally, Lucia A. Hindorff, Dona Kanavy, Vaidehi Jobanputra, Jennifer J. Johnston, Eimear E. Kenny, Shannon McNulty, Priyanka Murali, Jeffrey Ou, Bradford C. Powell, Heidi L. Rehm, Bradley A. Rolf, Tamara S. Roman, Jessica Van Ziffle, Saurav Guha, Avinash Abhyankar, David R. Crosslin, Eric Venner, Bo Yuan, Hana Zouk, Gail P. Jarvik
Topics & Concepts
ConcordanceGenomicsExome sequencingMedicineExomeMedical geneticsComputational biologyWhole genome sequencingBioinformaticsGeneticsBiologyGenomeGeneInternal medicineMutationGenomics and Rare DiseasesBRCA gene mutations in cancerCancer Genomics and Diagnostics