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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

2020The American Journal of Human Genetics110 citationsDOIOpen Access PDF

Topics & Concepts

ConcordanceGenomicsExome sequencingMedicineExomeMedical geneticsComputational biologyWhole genome sequencingBioinformaticsGeneticsBiologyGenomeGeneInternal medicineMutationGenomics and Rare DiseasesBRCA gene mutations in cancerCancer Genomics and Diagnostics
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies | Litcius