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)

被引：12
|
作者：
Raca, Gordana [1 ]
Astbury, Caroline [2 ]
Behlmann, Andrea [3 ]
De Castro, Mauricio J. [4 ,5 ]
E. Hickey, Scott [6 ,7 ]
Karaca, Ender [8 ]
Lowther, Chelsea [9 ]
Rooney Riggs, Erin [10 ]
A. Seifert, Bryce [11 ]
C. Thorland, Erik [12 ]
Deignan, Joshua L. [13 ]
机构：
[1] Univ Southern Calif, Childrens Hosp Angeles, Dept Pathol & Lab Med, Los Angeles, CA 90007 USA
[2] Cleveland Clin, Robert J Tomsich Pathol & Lab Med Inst, Cleveland, OH USA
[3] Invitae, San Francisco, CA USA
[4] USAF, Mol Genet Lab, Med Genet Ctr, Keesler AFB, Biloxi, MS USA
[5] Univ Mississippi, Med Ctr, Jackson, MS USA
[6] Nationwide Childrens Hosp, Div Genet & Genom Med, Columbus, OH USA
[7] Ohio State Univ, Coll Med cine, Dept Pediat, Columbus, OH USA
[8] Baylor Univ, Dept Pathol, Med Ctr, Dallas, TX USA
[9] Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA USA
[10] Autism & Dev Med Inst, Danville, PA USA
[11] NIAID, NIH, Div Intramural Res, Bethesda, MD USA
[12] Mayo Clin, Dept Lab Med & Pathol, Genom Lab, Rochester, MN USA
[13] David Geffen Sch Med, Dept Pathol & Lab Med, UCLA, Los Angeles, CA USA
[14] Amer Coll Med Genet & Genom, Bethesda, MD USA
来源：
GENETICS IN MEDICINE | 2023年 / 25卷 / 02期
关键词：
Balanced rearrangements; Copy number variants; Exome sequencing; Genome sequencing; Structural variants; COPY-NUMBER VARIATION; JOINT-CONSENSUS-RECOMMENDATION; BALANCED CHROMOSOME REARRANGEMENTS; DETECTION TOOLS; VALIDATION; ASSOCIATION; GUIDELINES; STANDARDS; ALLELES; CAPTURE;
D O I：
10.1016/j.gim.2022.09.017
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页数：19
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