使用下一代测序检测种系结构变异时需考虑的要点：美国医学遗传学与基因组学学会（ACMG）声明 - Suppr

Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).

作者信息

Raca Gordana, Astbury Caroline, Behlmann Andrea, De Castro Mauricio J, Hickey Scott E, Karaca Ender, Lowther Chelsea, Riggs Erin Rooney, Seifert Bryce A, Thorland Erik C, Deignan Joshua L

机构信息

Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA.

Robert J. Tomsich Pathology & Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH.

出版信息

Genet Med. 2023 Feb;25(2):100316. doi: 10.1016/j.gim.2022.09.017. Epub 2022 Dec 12.

DOI:10.1016/j.gim.2022.09.017

PMID:36507974

Abstract

摘要

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Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).

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