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)

被引：94

作者：

Rehder, Catherine ^{[1
]}

Bean, Lora J. H. ^{[2
]}

Bick, David ^{[3
]}

Chao, Elizabeth ^{[4
]}

Chung, Wendy ^{[5
,6
]}

Das, Soma ^{[7
]}

O'Daniel, Julianne ^{[8
]}

Rehm, Heidi ^{[9
,10
]}

Shashi, Vandana ^{[11
]}

Vincent, Lisa M. ^{[12
,13
,14
]}

机构：

[1] Duke Univ, Dept Pathol, Durham, NC 27706 USA

[2] Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA

[3] HudsonAlpha Inst Biotechnol, Huntsville, AL USA

[4] Univ Calif Irvine, Dept Pediat, Div Genet & Genom, Irvine, CA 92717 USA

[5] Columbia Univ, Dept Pediat, New York, NY 10027 USA

[6] Columbia Univ, Dept Med, New York, NY USA

[7] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

[8] Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA

[9] Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA

[10] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA

[11] Duke Univ, Dept Pediat, Durham, NC 27706 USA

[12] Childrens Natl Hlth Syst, Div Pathol & Lab Med, Washington, DC USA

[13] George Washington Univ, Dept Pathol, Washington, DC USA

[14] George Washington Univ, Dept Pediat, Washington, DC 20052 USA

[15] Amer Coll Med Genet & Genom, Bethesda, MD USA

来源：

GENETICS IN MEDICINE | 2021年 / 23卷 / 08期

关键词：

JOINT-CONSENSUS-RECOMMENDATION; FOR-MOLECULAR-PATHOLOGY; TARGET-ENRICHMENT; EXOME; GUIDELINES; ASSOCIATION; VALIDATION; FRAMEWORK; STATEMENT; GENES;

D O I：

10.1038/s41436-021-01139-4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1399 / 1415

页数：17

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