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- [1] CONDEX: COpy Number Detection in EXome Sequences2011 IEEE INTERNATIONAL CONFERENCE ON BIOINFORMATICS AND BIOMEDICINE WORKSHOPS, 2011, : 87 - 93Ramachandran, Arthi论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Comp Sci, 1214 Amsterdam Ave, New York, NY 10025 USA Columbia Univ, Dept Comp Sci, 1214 Amsterdam Ave, New York, NY 10025 USAMicsinai, Mariann论文数: 0 引用数: 0 h-index: 0机构: NYU, Sch Med, NYU Canc Inst, 530 First Ave, New York, NY 10016 USA Columbia Univ, Dept Comp Sci, 1214 Amsterdam Ave, New York, NY 10025 USAPe'er, Itsik论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Comp Sci, 1214 Amsterdam Ave, New York, NY 10025 USA Columbia Univ, Dept Comp Sci, 1214 Amsterdam Ave, New York, NY 10025 USA
- [2] Detection of copy number variations in epilepsy using exome dataCLINICAL GENETICS, 2018, 93 (03) : 577 - 587论文数: 引用数: h-index:机构:Nakashima, M.论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanKato, M.论文数: 0 引用数: 0 h-index: 0机构: Yamagata Univ, Dept Pediat, Fac Med, Yamagata, Japan Showa Univ, Dept Pediat, Sch Med, Tokyo, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanHeyman, E.论文数: 0 引用数: 0 h-index: 0机构: Assaf Harofeh Med Ctr, Pediat Neurol Dept, Pediat Epilepsy Serv, Zerifin, Israel Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanInui, T.论文数: 0 引用数: 0 h-index: 0机构: Miyagi Childrens Hosp, Dept Neurol, Sendai, Miyagi, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanHaginoya, K.论文数: 0 引用数: 0 h-index: 0机构: Miyagi Childrens Hosp, Dept Neurol, Sendai, Miyagi, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanWatanabe, S.论文数: 0 引用数: 0 h-index: 0机构: Miyagi Childrens Hosp, Dept Neurol, Sendai, Miyagi, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan论文数: 引用数: h-index:机构:Morimoto, M.论文数: 0 引用数: 0 h-index: 0机构: Kyoto Prefectural Univ Med, Dept Pediat, Kyoto, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanOhta, M.论文数: 0 引用数: 0 h-index: 0机构: JA Toride Gen Hosp, Dept Pediat, Toride, Ibaraki, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanKumakura, A.论文数: 0 引用数: 0 h-index: 0机构: Kitano Hosp, Tazuke Kofukai Med Res Inst, Dept Pediat, Osaka, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanKubota, M.论文数: 0 引用数: 0 h-index: 0机构: Natl Ctr Child Hlth & Dev, Div Neurol, Tokyo, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanKumagai, Y.论文数: 0 引用数: 0 h-index: 0机构: Saitama Childrens Med Ctr, Div Neurol, Saitama, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanHamano, S. -I.论文数: 0 引用数: 0 h-index: 0机构: Saitama Childrens Med Ctr, Div Neurol, Saitama, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanLourenco, C. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sch Med Ribeirao Preto, Neurogenet Unit, Sao Paulo, Brazil Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanYahaya, N. A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Raja Perempuan Zainab II, Kota Baharu, Malaysia Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanCh'ng, G. -S.论文数: 0 引用数: 0 h-index: 0机构: Hosp Kuala Lumpur, Dept Genet, Kuala Lumpur, Malaysia Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanNgu, L. -H.论文数: 0 引用数: 0 h-index: 0机构: Hosp Kuala Lumpur, Dept Genet, Kuala Lumpur, Malaysia Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanFattal-Valevski, A.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Tel Aviv Sourasky Med Ctr, Dana Dwek Childrens Hosp, Pediat Neurol Unit, Tel Aviv, Israel Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanHubshman, M. Weisz论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Unit, Petah Tiqwa, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, Petah Tiqwa, Israel Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanOrenstein, N.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Unit, Petah Tiqwa, Israel Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanMarom, D.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Unit, Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Pediat A, Petah Tiqwa, Israel Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanCohen, L.论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Unit, Petah Tiqwa, Israel Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanGoldberg-Stern, H.论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Epilepsy Unit, Petah Tiqwa, Israel Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanUchiyama, Y.论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanImagawa, E.论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanMizuguchi, T.论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanTakata, A.论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanMiyake, N.论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, JapanNakajima, H.论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Stem Cell & Immune Regulat, Grad Sch Med, Yokohama, Kanagawa, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Matsumoto, N.论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan
- [3] Detection of copy number variations in epilepsy using exome dataEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 275 - 275Matsumoto, N.论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan论文数: 引用数: h-index:机构:
- [4] Exome sequencing vs chromosomal microarray for copy number variant detectionANNALS OF NEUROLOGY, 2025, 96 : S29 - S29McWalter, K.论文数: 0 引用数: 0 h-index: 0Sanyoura, M.论文数: 0 引用数: 0 h-index: 0Sack, L.论文数: 0 引用数: 0 h-index: 0Lindy, A.论文数: 0 引用数: 0 h-index: 0Douglas, G.论文数: 0 引用数: 0 h-index: 0Juusola, J.论文数: 0 引用数: 0 h-index: 0Kruszka, P.论文数: 0 引用数: 0 h-index: 0
- [5] VEGAWES: variational segmentation on whole exome sequencing for copy number detectionBMC BIOINFORMATICS, 2015, 16Anjum, Samreen论文数: 0 引用数: 0 h-index: 0机构: Qatar Comp Res Inst, Computat Sci & Engn, Doha, Qatar Qatar Comp Res Inst, Computat Sci & Engn, Doha, Qatar论文数: 引用数: h-index:机构:D'Angelo, Fulvio论文数: 0 引用数: 0 h-index: 0机构: BIOGEM, I-83031 Ariano Irpino, Italy Qatar Comp Res Inst, Computat Sci & Engn, Doha, Qatar论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [6] 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
- [7] Copy number variation detection and genotyping from exome sequence dataGENOME RESEARCH, 2012, 22 (08) : 1525 - 1532Krumm, Niklas论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USASudmant, Peter H.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USAKo, Arthur论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USAO'Roak, Brian J.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USAMalig, Maika论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USACoe, Bradley P.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USAQuinlan, Aaron R.论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Ctr Publ Hlth Gen, Dept Publ Hlth Sci, Charlottesville, VA 22908 USA Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USANickerson, Deborah A.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USAEichler, Evan E.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Howard Hughes Med Inst, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA
- [8] VEGAWES: variational segmentation on whole exome sequencing for copy number detectionBMC Bioinformatics, 16Samreen Anjum论文数: 0 引用数: 0 h-index: 0机构: Qatar Computing Research Institute,Computational Sciences and EngineeringSandro Morganella论文数: 0 引用数: 0 h-index: 0机构: Qatar Computing Research Institute,Computational Sciences and EngineeringFulvio D’Angelo论文数: 0 引用数: 0 h-index: 0机构: Qatar Computing Research Institute,Computational Sciences and EngineeringAntonio Iavarone论文数: 0 引用数: 0 h-index: 0机构: Qatar Computing Research Institute,Computational Sciences and EngineeringMichele Ceccarelli论文数: 0 引用数: 0 h-index: 0机构: Qatar Computing Research Institute,Computational Sciences and Engineering
- [9] Detection of Clinically Relevant Copy Number Variants with Whole-Exome SequencingHUMAN MUTATION, 2013, 34 (10) : 1439 - 1448de Ligt, Joep论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsBoone, Philip M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsPfundt, Rolph论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsVissers, Lisenka E. L. M.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsRichmond, Todd论文数: 0 引用数: 0 h-index: 0机构: Roche NimbleGen, Madison, WI USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsGeoghegan, Joel论文数: 0 引用数: 0 h-index: 0机构: Roche NimbleGen, Madison, WI USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsO'Moore, Kathleen论文数: 0 引用数: 0 h-index: 0机构: Roche NimbleGen, Madison, WI USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlandsde Leeuw, Nicole论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsShaw, Christine论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Roche NimbleGen, Madison, WI USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsBrunner, Han G.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsLupski, James R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB 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, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, NetherlandsHehir-Kwa, Jayne Y.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen Ctr Mol Life Sci,Inst Genet & Metab Dis, NL-6500 HB Nijmegen, Netherlands
- [10] CODEX: a normalization and copy number variation detection method for whole exome sequencingNUCLEIC ACIDS RESEARCH, 2015, 43 (06) : e39Jiang, Yuchao论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Genom & Computat Biol Grad Program, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Genom & Computat Biol Grad Program, Philadelphia, PA 19104 USAOldridge, Derek A.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Perelman Sch Med, Med Scientist Training Program, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Childhood Canc Res, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Genom & Computat Biol Grad Program, Philadelphia, PA 19104 USADiskin, Sharon J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Childhood Canc Res, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Abramson Family Canc Res Inst, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Genom & Computat Biol Grad Program, Philadelphia, PA 19104 USAZhang, Nancy R.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Wharton Sch, Dept Stat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Genom & Computat Biol Grad Program, Philadelphia, PA 19104 USA