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

Abstract:

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...

Type:

Journal Article

Date:

2015

Authors and Contributors:

Sue Richards Nazneen Aziz Sherri Bale David Bick Soma Das Julie Gastier-Foster Wayne W. Grody Madhuri Hegde Elaine Lyon Elaine Spector Karl Voelkerding Heidi L. Rehm

Pages:

405-24

Site link:

Read the Journal 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

URL Citation:

https://doi.org/10.1038/gim.2015.30

DOI:

10.1038/gim.2015.30

Issue:

5

Volume:

17

Publication:

Genetics in Medicine

LawSeq^SM Record Last Modified:

04/10/2026