Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
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| Title: | Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses. |
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| Authors: | Uchiyama Y; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Yamaguchi D; BITS Co., Ltd., Tokyo, Japan., Iwama K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan., Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Tsuchida N; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Aoi H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Faculty of Medicine Juntendo University, Tokyo, Japan., Azuma Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Itai T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Fukuda H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Sekiguchi F; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Sakaguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Lei M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Ohori S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Sakamoto M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan., Koike T; National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan., Takahashi Y; National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan., Tanda K; Department of Pediatrics, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan., Hyodo Y; Department of Child Neurology, Okayama University Hospital, Okayama, Japan., Honjo RS; Unidade de Genetica do Instituto da Crianca do Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Bertola DR; Unidade de Genetica do Instituto da Crianca do Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Kim CA; Unidade de Genetica do Instituto da Crianca do Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Goto M; Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan., Okazaki T; Department of Brain and Neurosciences, Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan., Yamada H; Department of Brain and Neurosciences, Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan., Maegaki Y; Department of Brain and Neurosciences, Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan., Osaka H; Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan., Ngu LH; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia., Siew CG; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia., Teik KW; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia., Akasaka M; Department of Pediatrics, Iwate Medical University School of Medicine, Morioka, Japan., Doi H; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Tanaka F; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Goto T; Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan., Guo L; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan., Ikegawa S; Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan., Haginoya K; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, Japan., Haniffa M; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia., Hiraishi N; Department of Pediatrics, Yokohama City University Medical Center, Yokohama, Japan., Hiraki Y; Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan., Ikemoto S; Division of Neurology, Saitama Children's Medical Center, Saitama, Japan., Daida A; Division of Neurology, Saitama Children's Medical Center, Saitama, Japan., Hamano SI; Division of Neurology, Saitama Children's Medical Center, Saitama, Japan., Miura M; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.; Department of Pediatrics, Nagaoka Red Cross Hospital, Nagaoka, Japan., Ishiyama A; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Kawano O; Department of Pediatrics, Hokkaido University Hospital, Sapporo, Japan., Kondo A; Clinical Genetics Center, Shikoku Medical Center for Children and Adults, National Hospital Organization, Kagawa, Japan., Matsumoto H; Department of Pediatrics, National Defense Medical College, Saitama, Japan., Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan., Okanishi T; Department of Brain and Neurosciences, Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan.; Department of Child Neurology, Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Hamamatsu, Japan., Oyoshi Y; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Takeshita E; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan., Suzuki T; Department of Obstetrics and Gynecology, Faculty of Medicine Juntendo University, Tokyo, Japan., Ogawa Y; Department of Hematology, Gunma University Graduate School of Medicine, Gunma, Japan., Handa H; Department of Hematology, Gunma University Graduate School of Medicine, Gunma, Japan., Miyazono Y; Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan., Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. |
| Source: | Human mutation [Hum Mutat] 2021 Jan; Vol. 42 (1), pp. 50-65. Date of Electronic Publication: 2020 Nov 11. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1002/humu.24129 |
