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- [1] Performance of copy number variants detection based on whole-genome sequencing by DNBSEQ platformsBMC BIOINFORMATICS, 2020, 21 (01)Rao, Junhua论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, MGI, Shenzhen 518083, Peoples R China BGI Shenzhen, MGI, Shenzhen 518083, Peoples R ChinaPeng, Lihua论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China BGI Shenzhen, MGI, Shenzhen 518083, Peoples R ChinaLiang, Xinming论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, MGI, Shenzhen 518083, Peoples R China BGI Shenzhen, MGI, Shenzhen 518083, Peoples R ChinaJiang, Hui论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, MGI, Shenzhen 518083, Peoples R China BGI Shenzhen, MGI, Shenzhen 518083, Peoples R ChinaGeng, Chunyu论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, MGI, Shenzhen 518083, Peoples R China BGI Shenzhen, MGI, Shenzhen 518083, Peoples R ChinaZhao, Xia论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, MGI, Shenzhen 518083, Peoples R China BGI Shenzhen, MGI, Shenzhen 518083, Peoples R ChinaLiu, Xin论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China BGI Shenzhen, BGI Qingdao, Qingdao 266555, Shandong, Peoples R China BGI Shenzhen, IGDB BGI Joint Ctr Om, Shenzhen 518083, Peoples R China BGI Shenzhen, State Key Lab Agr Genom, Shenzhen 518083, Peoples R China BGI Shenzhen, MGI, Shenzhen 518083, Peoples R ChinaFan, Guangyi论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Qingdao, Qingdao 266555, Shandong, Peoples R China BGI Shenzhen, State Key Lab Agr Genom, Shenzhen 518083, Peoples R China BGI Shenzhen, MGI, Shenzhen 518083, Peoples R ChinaChen, Fang论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, MGI, Shenzhen 518083, Peoples R China BGI Shenzhen, Shenzhen 518083, Peoples R China BGI Shenzhen, China Natl GeneBank, Shenzhen 518120, Peoples R China BGI Shenzhen, MGI, Shenzhen 518083, Peoples R ChinaMu, Feng论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, MGI, Shenzhen 518083, Peoples R China BGI Shenzhen, MGI Wuhan, Wuhan 430074, Peoples R China BGI Shenzhen, MGI, Shenzhen 518083, Peoples R China
- [2] Combining callers improves the detection of copy number variants from whole-genome sequencingEUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (02) : 178 - 186Coutelier, Marie论文数: 0 引用数: 0 h-index: 0机构: Charite, Inst Med & Human Genet, Berlin, Germany Charite, Inst Med & Human Genet, Berlin, GermanyHoltgrewe, Manuel论文数: 0 引用数: 0 h-index: 0机构: Berlin Inst Hlth, Core Unit Bioinformat, Berlin, Germany Charite Univ Med Berlin, Berlin, Germany Charite, Inst Med & Human Genet, Berlin, GermanyJaeger, Marten论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Berlin, Germany Berlin Inst Hlth, Core Unit Genom, Berlin, Germany Charite, Inst Med & Human Genet, Berlin, GermanyFloettman, Ricarda论文数: 0 引用数: 0 h-index: 0机构: Charite, Inst Med & Human Genet, Berlin, Germany Charite, Inst Med & Human Genet, Berlin, GermanyMensah, Martin A.论文数: 0 引用数: 0 h-index: 0机构: Charite, Inst Med & Human Genet, Berlin, Germany Berlin Inst Hlth BIH, Anna Louisa Karsch Str 2, D-10178 Berlin, Germany Charite, Inst Med & Human Genet, Berlin, Germany论文数: 引用数: h-index:机构:Krawitz, Peter论文数: 0 引用数: 0 h-index: 0机构: Inst Genom Stat & Bioinformat, Bonn, Germany Charite, Inst Med & Human Genet, Berlin, GermanyHorn, Denise论文数: 0 引用数: 0 h-index: 0机构: Charite, Inst Med & Human Genet, Berlin, Germany Charite, Inst Med & Human Genet, Berlin, GermanyBeule, Dieter论文数: 0 引用数: 0 h-index: 0机构: Berlin Inst Hlth, Core Unit Bioinformat, Berlin, Germany Max Delbruck Ctr Mol Med, Berlin, Germany Charite, Inst Med & Human Genet, Berlin, GermanyMundlos, Stefan论文数: 0 引用数: 0 h-index: 0机构: Charite, Inst Med & Human Genet, Berlin, Germany Max Planck Inst Mol Genet, Berlin, Germany Charite, Inst Med & Human Genet, Berlin, Germany
- [3] Combining callers improves the detection of copy number variants from whole-genome sequencingEuropean Journal of Human Genetics, 2022, 30 : 178 - 186Marie Coutelier论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical and Human Genetics,Institute of Human GeneticsManuel Holtgrewe论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical and Human Genetics,Institute of Human GeneticsMarten Jäger论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical and Human Genetics,Institute of Human GeneticsRicarda Flöttman论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical and Human Genetics,Institute of Human GeneticsMartin A. Mensah论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical and Human Genetics,Institute of Human GeneticsMalte Spielmann论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical and Human Genetics,Institute of Human GeneticsPeter Krawitz论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical and Human Genetics,Institute of Human GeneticsDenise Horn论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical and Human Genetics,Institute of Human GeneticsDieter Beule论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical and Human Genetics,Institute of Human GeneticsStefan Mundlos论文数: 0 引用数: 0 h-index: 0机构: Institute of Medical and Human Genetics,Institute of Human Genetics
- [4] Performance evaluation of structural variation detection using DNBSEQ whole-genome sequencingBMC GENOMICS, 2025, 26 (01):Rao, Junhua论文数: 0 引用数: 0 h-index: 0机构: MGI Tech, Shenzhen 518083, Peoples R China BGI, Shenzhen 518083, Peoples R China MGI Tech, Shenzhen 518083, Peoples R ChinaLuo, Huijuan论文数: 0 引用数: 0 h-index: 0机构: BGI, Shenzhen 518083, Peoples R China MGI Tech, Shenzhen 518083, Peoples R ChinaAn, Dan论文数: 0 引用数: 0 h-index: 0机构: MGI Tech, Shenzhen 518083, Peoples R China BGI, Shenzhen 518083, Peoples R China MGI Tech, Shenzhen 518083, Peoples R ChinaLiang, Xinming论文数: 0 引用数: 0 h-index: 0机构: MGI Tech, Shenzhen 518083, Peoples R China BGI, Shenzhen 518083, Peoples R China MGI Tech, Shenzhen 518083, Peoples R ChinaPeng, Lihua论文数: 0 引用数: 0 h-index: 0机构: BGI, Shenzhen 518083, Peoples R China MGI Tech, Shenzhen 518083, Peoples R ChinaChen, Fang论文数: 0 引用数: 0 h-index: 0机构: MGI Tech, Shenzhen 518083, Peoples R China BGI, Shenzhen 518083, Peoples R China MGI Tech, Shenzhen 518083, Peoples R China
- [5] Copy Number Variants Identified By Shallow Whole-Genome Sequencing in Multiple MyelomaBLOOD, 2024, 144 : 6931 - 6931Li, Jiali论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Xinqiao Hosp, Chongqing, Peoples R China Army Med Univ, Xinqiao Hosp, Chongqing, Peoples R ChinaXiang, Xixi论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Xinqiao Hosp, Chongqing, Peoples R China Army Med Univ, Xinqiao Hosp, Chongqing, Peoples R ChinaRao, Jun论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Med Ctr Hematol, State Key Lab Trauma & Chem Poisoning, Chongqing Key Lab Hematol & Microenvironm,Xinqiao, Chongqing, Peoples R China Army Med Univ, Xinqiao Hosp, Chongqing, Peoples R ChinaZhou, Sha论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Xinqiao Hosp, Dept Hematol, Chongqing, Peoples R China Army Med Univ, Xinqiao Hosp, Chongqing, Peoples R ChinaZeng, Yunjing论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Xinqiao Hosp, Chongqing, Peoples R China Army Med Univ, Xinqiao Hosp, Chongqing, Peoples R ChinaZhang, Xi论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Med Ctr Hematol, State Key Lab Trauma & Chem Poisoning, Chongqing Key Lab Hematol & Microenvironm,Xinqiao, Chongqing, Peoples R China Army Med Univ, Xinqiao Hosp, Chongqing, Peoples R ChinaGao, Li论文数: 0 引用数: 0 h-index: 0机构: Army Med Univ, Xinqiao Hosp, Chongqing, Peoples R China Army Med Univ, Xinqiao Hosp, Chongqing, Peoples R China
- [6] Clinical Validation of Whole-Genome Sequencing for the Detection of Copy Number VariationJOURNAL OF MOLECULAR DIAGNOSTICS, 2022, 24 (10): : S27 - S27Thayanithy, V.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Univ Minnesota Hlth Fairview, Med Ctr, Minneapolis, MN USA Univ Minnesota, Univ Minnesota Hlth Fairview, Med Ctr, Minneapolis, MN USAThyagarajan, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Minneapolis, MN USA Univ Minnesota, Univ Minnesota Hlth Fairview, Med Ctr, Minneapolis, MN USABower, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Univ Minnesota Hlth Fairview, Med Ctr, Minneapolis, MN USA Univ Minnesota, Univ Minnesota Hlth Fairview, Med Ctr, Minneapolis, MN USAMunro, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Minneapolis, MN USA Univ Minnesota, Univ Minnesota Hlth Fairview, Med Ctr, Minneapolis, MN USALam, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Minneapolis, MN USA Univ Minnesota, Univ Minnesota Hlth Fairview, Med Ctr, Minneapolis, MN USABray, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Univ Minnesota Hlth Fairview, Med Ctr, Minneapolis, MN USA Univ Minnesota, Univ Minnesota Hlth Fairview, Med Ctr, Minneapolis, MN USAVivek, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Minneapolis, MN USA Univ Minnesota, Univ Minnesota Hlth Fairview, Med Ctr, Minneapolis, MN USASchomaker, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Univ Minnesota Hlth Fairview, Med Ctr, Minneapolis, MN USA Univ Minnesota, Univ Minnesota Hlth Fairview, Med Ctr, Minneapolis, MN USADaniel, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Minneapolis, MN USA Univ Minnesota, Univ Minnesota Hlth Fairview, Med Ctr, Minneapolis, MN USAHenzler, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Minneapolis, MN USA Univ Minnesota, Univ Minnesota Hlth Fairview, Med Ctr, Minneapolis, MN USA论文数: 引用数: h-index:机构:Yohe, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Minneapolis, MN USA Univ Minnesota, Univ Minnesota Hlth Fairview, Med Ctr, Minneapolis, MN USAMcIntyre, K.论文数: 0 引用数: 0 h-index: 0机构: Invitae, San Francisco, CA USA Univ Minnesota, Univ Minnesota Hlth Fairview, Med Ctr, Minneapolis, MN USA
- [7] Performance comparison of whole-genome sequencing platformsNature Biotechnology, 2012, 30 : 78 - 82Hugo Y K Lam论文数: 0 引用数: 0 h-index: 0机构: Stanford University,Department of GeneticsMichael J Clark论文数: 0 引用数: 0 h-index: 0机构: Stanford University,Department of GeneticsRui Chen论文数: 0 引用数: 0 h-index: 0机构: Stanford University,Department of GeneticsRong Chen论文数: 0 引用数: 0 h-index: 0机构: Stanford University,Department of GeneticsGeorges Natsoulis论文数: 0 引用数: 0 h-index: 0机构: Stanford University,Department of GeneticsMaeve O'Huallachain论文数: 0 引用数: 0 h-index: 0机构: Stanford University,Department of GeneticsFrederick E Dewey论文数: 0 引用数: 0 h-index: 0机构: Stanford University,Department of GeneticsLukas Habegger论文数: 0 引用数: 0 h-index: 0机构: Stanford University,Department of GeneticsEuan A Ashley论文数: 0 引用数: 0 h-index: 0机构: Stanford University,Department of GeneticsMark B Gerstein论文数: 0 引用数: 0 h-index: 0机构: Stanford University,Department of GeneticsAtul J Butte论文数: 0 引用数: 0 h-index: 0机构: Stanford University,Department of GeneticsHanlee P Ji论文数: 0 引用数: 0 h-index: 0机构: Stanford University,Department of GeneticsMichael Snyder论文数: 0 引用数: 0 h-index: 0机构: Stanford University,Department of Genetics
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- [10] Performance Evaluation of NIPT in Detection of Chromosomal Copy Number Variants Using Low-Coverage Whole-Genome Sequencing of Plasma DNAPLOS ONE, 2016, 11 (07):Liu, Hongtai论文数: 0 引用数: 0 h-index: 0机构: Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R China BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaGao, Ya论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaHu, Zhiyang论文数: 0 引用数: 0 h-index: 0机构: Jinan Univ, Sch Clin Med 2, Shenzhen Peoples Hosp, Shenzhen 518020, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaLin, Linhua论文数: 0 引用数: 0 h-index: 0机构: Jinan Univ, Sch Clin Med 2, Shenzhen Peoples Hosp, Shenzhen 518020, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaYin, Xuyang论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaWang, Jun论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaChen, Dayang论文数: 0 引用数: 0 h-index: 0机构: Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R China BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaChen, Fang论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Copenhagen, Fac Hlth & Med Sci, Dept Vet Dis Biol, Sect Mol Dis Biol, DK-2200 Copenhagen N, Denmark Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaJiang, Hui论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaRen, Jinghui论文数: 0 引用数: 0 h-index: 0机构: Jinan Univ, Sch Clin Med 2, Shenzhen Peoples Hosp, Shenzhen 518020, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R ChinaWang, Wei论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen 518083, Peoples R China