Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Journal Article (Journal Article)

Next-generation sequencing (NGS) technologies are now established in clinical laboratories as a primary testing modality in genomic medicine. These technologies have reduced the cost of large-scale sequencing by several orders of magnitude. It is now cost-effective to analyze an individual with disease-targeted gene panels, exome sequencing, or genome sequencing to assist in the diagnosis of a wide array of clinical scenarios. While clinical validation and use of NGS in many settings is established, there are continuing challenges as technologies and the associated informatics evolve. To assist clinical laboratories with the validation of NGS methods and platforms, the ongoing monitoring of NGS testing to ensure quality results, and the interpretation and reporting of variants found using these technologies, the American College of Medical Genetics and Genomics (ACMG) has developed the following technical standards.

Full Text

Duke Authors

Cited Authors

  • Rehder, C; Bean, LJH; Bick, D; Chao, E; Chung, W; Das, S; O'Daniel, J; Rehm, H; Shashi, V; Vincent, LM; ACMG Laboratory Quality Assurance Committee,

Published Date

  • August 2021

Published In

Volume / Issue

  • 23 / 8

Start / End Page

  • 1399 - 1415

PubMed ID

  • 33927380

Electronic International Standard Serial Number (EISSN)

  • 1530-0366

Digital Object Identifier (DOI)

  • 10.1038/s41436-021-01139-4


  • eng

Conference Location

  • United States