Article
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.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2015
Richards Sue, Aziz Nazneen, Bale Sherri, Bick David, Das Soma, Gastier-Foster Julie, Grody Wayne W, Hegde Madhuri, Lyon Elaine, Spector Elaine, Voelkerding Karl, Rehm Heidi L
Abstract excerpt
The American College of Medical Genetics and Genomics (ACMG) previously developed guidance for the interpretation of sequence variants.(1) In the past decade, sequencing technology has evolved rapidly with the advent of high-throughput next-generation sequencing. By adopting and leveraging next-generation sequencing, clinical laboratories are now performing an ever-increasing catalogue of genetic testing spanning...
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