AutoCNV: a semiautomatic CNV interpretation system based on the 2019 ACMG/ClinGen Technical Standards for CNVs.

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第一作者： Chunna,Fan

第一单位： College of Life Sciences, University of Chinese Academy of Sciences, 100049, Beijing, China.

作者： Chunna,Fan ^[1] ; Zhonghua,Wang ^[2] ; Yan,Sun ^[3] ; Jun,Sun ^[2] ; Xi,Liu ^[3] ; Licheng,Kang ^[4] ; Yingshuo,Xu ^[2] ; Manqiu,Yang ^[3] ; Wentao,Dai ^[2] ; Lijie,Song ^[3] ; Xiaoming,Wei ^[2] ; Jiale,Xiang ^[3] ; Hui,Huang ^[2] ; Meizhen,Zhou ^[3] ; Fanwei,Zeng ^[2] ; Lin,Huang ^[3] ; Zhengfeng,Xu ^[2] ; Zhiyu,Peng ^[3]

作者单位： College of Life Sciences, University of Chinese Academy of Sciences, 100049, Beijing, China. ^[1] Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China. ^[2] Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China. ^[3] BGI Genomics, BGI-Shenzhen, 518083, Shenzhen, China. ^[4] BGI-Wuhan Clinical Laboratories, BGI-Shenzhen, 490079, Wuhan, China. ^[5] Department of Biology, Faculty of Science, University of Copenhagen, DK-2200, Copenhagen, Denmark. ^[6] State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, 210004, Nanjing, China. zhengfeng_xu_nj@163.com. ^[7] BGI Genomics, BGI-Shenzhen, 518083, Shenzhen, China. pengzhiyu@bgi.com. ^[8]

关键词 AutoCNV CNV classification CNV interpretation Scoring

主题词 DNA拷贝数变异(DNA Copy Number Variations);基因组学(Genomics);人类(Humans);结果可重复性(Reproducibility of Results)

DOI 10.1186/s12864-021-08011-4

PMID 34615484

发布时间 2021-10-10

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准确一般字义偏差语意偏离译文作用小提交