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- [1] Exome sequencing and whole genome sequencing for the detection of copy number variationEXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 2015, 15 (08) : 1023 - 1032Hehir-Kwa, Jayne Y.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsPfundt, Rolph论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Inst Mol Life Sci, Nijmegen, Netherlands Donders Ctr Neurosci, Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, NetherlandsVeltman, Joris A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands Radboud Inst Mol Life Sci, Nijmegen, Netherlands Donders Ctr Neurosci, Nijmegen, Netherlands Maastricht Univ, Med Ctr, Dept Clin Genet, Maastricht, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands
- [2] ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing dataGenome Medicine, 13Andre E. Minoche论文数: 0 引用数: 0 h-index: 0机构: Kinghorn Centre for Clinical Genomics,Children’s Cancer InstituteBen Lundie论文数: 0 引用数: 0 h-index: 0机构: Kinghorn Centre for Clinical Genomics,Children’s Cancer InstituteGreg B. Peters论文数: 0 引用数: 0 h-index: 0机构: Kinghorn Centre for Clinical Genomics,Children’s Cancer InstituteThomas Ohnesorg论文数: 0 引用数: 0 h-index: 0机构: Kinghorn Centre for Clinical Genomics,Children’s Cancer InstituteMark Pinese论文数: 0 引用数: 0 h-index: 0机构: Kinghorn Centre for Clinical Genomics,Children’s Cancer InstituteDavid M. Thomas论文数: 0 引用数: 0 h-index: 0机构: Kinghorn Centre for Clinical Genomics,Children’s Cancer InstituteAndreas Zankl论文数: 0 引用数: 0 h-index: 0机构: Kinghorn Centre for Clinical Genomics,Children’s Cancer InstituteTony Roscioli论文数: 0 引用数: 0 h-index: 0机构: Kinghorn Centre for Clinical Genomics,Children’s Cancer InstituteNicole Schonrock论文数: 0 引用数: 0 h-index: 0机构: Kinghorn Centre for Clinical Genomics,Children’s Cancer InstituteSarah Kummerfeld论文数: 0 引用数: 0 h-index: 0机构: Kinghorn Centre for Clinical Genomics,Children’s Cancer InstituteLeslie Burnett论文数: 0 引用数: 0 h-index: 0机构: Kinghorn Centre for Clinical Genomics,Children’s Cancer InstituteMarcel E. Dinger论文数: 0 引用数: 0 h-index: 0机构: Kinghorn Centre for Clinical Genomics,Children’s Cancer InstituteMark J. Cowley论文数: 0 引用数: 0 h-index: 0机构: Kinghorn Centre for Clinical Genomics,Children’s Cancer Institute
- [3] ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing dataGENOME MEDICINE, 2021, 13 (01)Minoche, Andre E.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, Australia UNSW, St Vincents Clin Sch, Sydney, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, AustraliaLundie, Ben论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, AustraliaPeters, Greg B.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Sydney Genome Diagnost, Hawkesbury Rd & Hainsworth St, Westmead, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, AustraliaOhnesorg, Thomas论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, Australia Genome One, Darlinghurst, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, AustraliaPinese, Mark论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Childrens Canc Inst, Sydney, NSW, Australia UNSW, Sch Womens & Childrens Hlth, Sydney, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, AustraliaThomas, David M.论文数: 0 引用数: 0 h-index: 0机构: UNSW, St Vincents Clin Sch, Sydney, NSW, Australia Garvan Inst Med Res, Kinghorn Canc Ctr, 370 Victoria St, Darlinghurst, NSW, Australia Garvan Inst Med Res, Canc Div, 370 Victoria St, Darlinghurst, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, AustraliaZankl, Andreas论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, Australia Childrens Hosp Westmead, Dept Clin Genet, Hawkesbury Rd, Westmead, NSW, Australia Univ Sydney, Sydney Med Sch, Camperdown, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, AustraliaRoscioli, Tony论文数: 0 引用数: 0 h-index: 0机构: NSW Hlth Pathol Randwick, Sydney, NSW, Australia Sydney Childrens Hosp, Ctr Clin Genet, Randwick, NSW, Australia Univ New South Wales, Prince Wales Clin Sch, Sydney, NSW, Australia Univ New South Wales, Neurosci Res Australia, Sydney, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, AustraliaSchonrock, Nicole论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, Australia Genome One, Darlinghurst, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, AustraliaKummerfeld, Sarah论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, Australia UNSW, St Vincents Clin Sch, Sydney, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, AustraliaBurnett, Leslie论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, Australia UNSW, St Vincents Clin Sch, Sydney, NSW, Australia Univ Sydney, Sydney Med Sch, Camperdown, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, AustraliaDinger, Marcel E.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, Australia UNSW, Sch Biotechnol & Biomol Sci, Sydney, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, AustraliaCowley, Mark J.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, Australia UNSW, St Vincents Clin Sch, Sydney, NSW, Australia Univ New South Wales, Childrens Canc Inst, Sydney, NSW, Australia UNSW, Sch Womens & Childrens Hlth, Sydney, NSW, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, 370 Victoria St, Darlinghurst, NSW, Australia
- [4] Improvement of large copy number variant detection by whole genome nanopore sequencingJOURNAL OF ADVANCED RESEARCH, 2023, 50 : 145 - 158Cuenca-Guardiola, Javier论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Fac Informat, Dept Informat & Sistemas, CEIR Campus Mare Nostrum,IMIB Arrixaca, Campus Espinardo, Murcia 30100, Spain Univ Murcia, Fac Informat, Dept Informat & Sistemas, CEIR Campus Mare Nostrum,IMIB Arrixaca, Campus Espinardo, Murcia 30100, Spainde la Morena-Barrio, Belen论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Hosp Univ Morales Meseguer, Ctr Reg Hemodonac, Serv Hematol & Oncol Med,IMIB Arrixaca,CIBERER, Ronda Garay S-N, Murcia 30003, Spain Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Univ Murcia, Fac Informat, Dept Informat & Sistemas, CEIR Campus Mare Nostrum,IMIB Arrixaca, Campus Espinardo, Murcia 30100, SpainGarcia, Juan L.论文数: 0 引用数: 0 h-index: 0机构: Univ Salamanca, Univ Hosp Salamanca, Dept Hematol, Inst Invest Biomed IBSAL,Dept Med,Canc Res Ctr IBM, Salamanca, Spain Univ Murcia, Fac Informat, Dept Informat & Sistemas, CEIR Campus Mare Nostrum,IMIB Arrixaca, Campus Espinardo, Murcia 30100, SpainSanchis-Juan, Alba论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn, NIHR BioResource, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Murcia, Fac Informat, Dept Informat & Sistemas, CEIR Campus Mare Nostrum,IMIB Arrixaca, Campus Espinardo, Murcia 30100, SpainCorral, Javier论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Hosp Univ Morales Meseguer, Ctr Reg Hemodonac, Serv Hematol & Oncol Med,IMIB Arrixaca,CIBERER, Ronda Garay S-N, Murcia 30003, Spain Univ Murcia, Fac Informat, Dept Informat & Sistemas, CEIR Campus Mare Nostrum,IMIB Arrixaca, Campus Espinardo, Murcia 30100, SpainFernandez-Breis, Jesualdo T.论文数: 0 引用数: 0 h-index: 0机构: Univ Murcia, Fac Informat, Dept Informat & Sistemas, CEIR Campus Mare Nostrum,IMIB Arrixaca, Campus Espinardo, Murcia 30100, Spain Univ Murcia, Fac Informat, Dept Informat & Sistemas, CEIR Campus Mare Nostrum,IMIB Arrixaca, Campus Espinardo, Murcia 30100, Spain
- [5] Long insert whole genome sequencing for copy number variant and translocation detectionNUCLEIC ACIDS RESEARCH, 2014, 42 (02)Liang, Winnie S.论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USA Translat Genom Res Inst, Neurogenom Div, Phoenix, AZ 85004 USA Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USAAldrich, Jessica论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Neurogenom Div, Phoenix, AZ 85004 USA Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USATembe, Waibhav论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USA Translat Genom Res Inst, Neurogenom Div, Phoenix, AZ 85004 USA Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USAKurdoglu, Ahmet论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Neurogenom Div, Phoenix, AZ 85004 USA Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USACherni, Irene论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USA Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USAPhillips, Lori论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USA Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USAReiman, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USA Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USABaker, Angela论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USA Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USAWeiss, Glen J.论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USA Canc Treatment Ctr Amer, Goodyear, AZ 85338 USA Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USACarpten, John D.论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USA Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USACraig, David W.论文数: 0 引用数: 0 h-index: 0机构: Translat Genom Res Inst, Neurogenom Div, Phoenix, AZ 85004 USA Translat Genom Res Inst, Integrated Canc Genom Div, Phoenix, AZ 85004 USA
- [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] Detecting Copy Number Variation from Whole-Genome Sequencing DataCYTOGENETIC AND GENOME RESEARCH, 2014, 142 (03)Jobanputra, V.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol & Cell Biol, Med Ctr, New York, NY USA Columbia Univ, Dept Pathol & Cell Biol, Med Ctr, New York, NY USAKlein, R.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA USA Columbia Univ, Dept Pathol & Cell Biol, Med Ctr, New York, NY USANahum, O.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol & Cell Biol, Med Ctr, New York, NY USA Columbia Univ, Dept Pathol & Cell Biol, Med Ctr, New York, NY USAYang, S.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA USA Columbia Univ, Dept Pathol & Cell Biol, Med Ctr, New York, NY USABallinger, D.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA USA Columbia Univ, Dept Pathol & Cell Biol, Med Ctr, New York, NY USABeilharz, E.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA USA Columbia Univ, Dept Pathol & Cell Biol, Med Ctr, New York, NY USALevy, B.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pathol & Cell Biol, Med Ctr, New York, NY USA Columbia Univ, Dept Pathol & Cell Biol, Med Ctr, New York, NY USA
- [8] Effective normalization for copy number variation detection from whole genome sequencingBMC GENOMICS, 2012, 13Janevski, Angel论文数: 0 引用数: 0 h-index: 0机构: Philips Res, Briarcliff Manor, NY 10510 USA Philips Res, Briarcliff Manor, NY 10510 USAVaradan, Vinay论文数: 0 引用数: 0 h-index: 0机构: Philips Res, Briarcliff Manor, NY 10510 USA Philips Res, Briarcliff Manor, NY 10510 USAKamalakaran, Sitharthan论文数: 0 引用数: 0 h-index: 0机构: Philips Res, Briarcliff Manor, NY 10510 USA Philips Res, Briarcliff Manor, NY 10510 USABanerjee, Nilanjana论文数: 0 引用数: 0 h-index: 0机构: Philips Res, Briarcliff Manor, NY 10510 USA Philips Res, Briarcliff Manor, NY 10510 USADimitrova, Nevenka论文数: 0 引用数: 0 h-index: 0机构: Philips Res, Briarcliff Manor, NY 10510 USA Philips Res, Briarcliff Manor, NY 10510 USA
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