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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第一作者： Gordana,Raca

第一单位： Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA.

作者： Gordana,Raca ^[1] ; Caroline,Astbury ^[2] ; Andrea,Behlmann ^[3] ; Mauricio J,De Castro ^[4] ; Scott E,Hickey ^[5] ; Ender,Karaca ^[6] ; Chelsea,Lowther ^[7] ; Erin Rooney,Riggs ^[8] ; Bryce A,Seifert ^[9] ; Erik C,Thorland ^[10] ; Joshua L,Deignan ^[11] ; ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net ^[12]

作者单位： Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA. ^[1] Robert J. Tomsich Pathology & Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH. ^[2] Invitae, San Francisco, CA. ^[3] Molecular Genetics Laboratory, Air Force Medical Genetics Center, Keesler Air Force Base, Biloxi, MS; The University of Mississippi Medical Center, Jackson, MS. ^[4] Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, OH. ^[5] Department of Pathology, Baylor University Medical Center, Dallas, TX. ^[6] Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA. ^[7] Autism & Developmental Medicine Institute, Geisinger, Danville, PA. ^[8] Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD. ^[9] Genomics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN. ^[10] Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA. ^[11] American College of Medical Genetics and Genomics, Bethesda, MD. ^[12]

关键词 Balanced rearrangements Copy number variants Exome sequencing Genome sequencing Structural variants

主题词人类(Humans);美国(United States);遗传学, 医学(Genetics, Medical);基因组学(Genomics);基因检测(Genetic Testing);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);生殖细胞(Germ Cells)

DOI 10.1016/j.gim.2022.09.017

PMID 36507974

发布时间 2023-02-23

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