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)

Overview

Journal Genet Med

Publisher Elsevier

Specialty Genetics

Date 2021 Apr 30

PMID 33927380

Citations 42

Authors

Catherine Rehder

Lora J H Bean

David Bick

Elizabeth Chao

Wendy Chung

Soma Das

Julianne ODaniel

Heidi Rehm

Vandana Shashi

Lisa M Vincent

Affiliations

Soon will be listed here.

Abstract

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.

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