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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).

Publication ,  Journal Article
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 in: Genet Med
August 2021

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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Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

August 2021

Volume

23

Issue

8

Start / End Page

1399 / 1415

Location

United States

Related Subject Headings

  • United States
  • Laboratories
  • Humans
  • High-Throughput Nucleotide Sequencing
  • Genomics
  • Genetics, Medical
  • Genetics & Heredity
  • Genetic Testing
  • 3105 Genetics
  • 1103 Clinical Sciences
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Rehder, C., Bean, L. J. H., Bick, D., Chao, E., Chung, W., Das, S., … ACMG Laboratory Quality Assurance Committee, . (2021). 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). Genet Med, 23(8), 1399–1415. https://doi.org/10.1038/s41436-021-01139-4
Rehder, Catherine, Lora J. H. Bean, David Bick, Elizabeth Chao, Wendy Chung, Soma Das, Julianne O’Daniel, et al. “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).Genet Med 23, no. 8 (August 2021): 1399–1415. https://doi.org/10.1038/s41436-021-01139-4.
Rehder, Catherine, et al. “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).Genet Med, vol. 23, no. 8, Aug. 2021, pp. 1399–415. Pubmed, doi:10.1038/s41436-021-01139-4.
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. 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). Genet Med. 2021 Aug;23(8):1399–1415.

Published In

Genet Med

DOI

EISSN

1530-0366

Publication Date

August 2021

Volume

23

Issue

8

Start / End Page

1399 / 1415

Location

United States

Related Subject Headings

  • United States
  • Laboratories
  • Humans
  • High-Throughput Nucleotide Sequencing
  • Genomics
  • Genetics, Medical
  • Genetics & Heredity
  • Genetic Testing
  • 3105 Genetics
  • 1103 Clinical Sciences