Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards, Nazneen Aziz, Sherri J. Bale, David Bick, Soma Das, Julie M. Gastier‐Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl V. Voelkerding, Heidi L. Rehm
Topics & Concepts
Medical geneticsWorkgroupExome sequencingContext (archaeology)ExomeGenomicsGenetic testingGeneticsWhole genome sequencingGenetic associationComputational biologyBiologyBioinformaticsGenomeComputer scienceSingle-nucleotide polymorphismGeneGenotypeMutationComputer networkPaleontologyGenomics and Rare DiseasesBRCA gene mutations in cancerCancer Genomics and Diagnostics