Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses-Reference-Cited by-同舟云学术

Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

Published:2020-11-11 Issue:1 Volume:42 Page:50-65
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Uchiyama Yuri¹²^ORCID,Yamaguchi Daisuke³^ORCID,Iwama Kazuhiro²⁴^ORCID,Miyatake Satoko²⁵,Hamanaka Kohei²^ORCID,Tsuchida Naomi¹²^ORCID,Aoi Hiromi²⁶,Azuma Yoshiteru²^ORCID,Itai Toshiyuki²^ORCID,Saida Ken²^ORCID,Fukuda Hiromi²⁷,Sekiguchi Futoshi²,Sakaguchi Tomohiro²,Lei Ming²,Ohori Sachiko²,Sakamoto Masamune²⁴,Kato Mitsuhiro⁸^ORCID,Koike Takayoshi⁹^ORCID,Takahashi Yukitoshi⁹^ORCID,Tanda Koichi¹⁰^ORCID,Hyodo Yuki¹¹,Honjo Rachel S.¹²^ORCID,Bertola Debora Romeo¹²^ORCID,Kim Chong Ae¹²^ORCID,Goto Masahide¹³^ORCID,Okazaki Tetsuya¹⁴^ORCID,Yamada Hiroyuki¹⁴^ORCID,Maegaki Yoshihiro¹⁴^ORCID,Osaka Hitoshi¹³^ORCID,Ngu Lock‐Hock¹⁵^ORCID,Siew Ch'ng G.¹⁵^ORCID,Teik Keng W.¹⁵^ORCID,Akasaka Manami¹⁶,Doi Hiroshi⁷^ORCID,Tanaka Fumiaki⁷^ORCID,Goto Tomohide¹⁷,Guo Long¹⁸^ORCID,Ikegawa Shiro¹⁸^ORCID,Haginoya Kazuhiro¹⁹,Haniffa Muzhirah¹⁵,Hiraishi Nozomi²⁰,Hiraki Yoko²¹,Ikemoto Satoru²²,Daida Atsuro²²^ORCID,Hamano Shin‐ichiro²²,Miura Masaki²³²⁴,Ishiyama Akihiko²³,Kawano Osamu²⁵,Kondo Akane²⁶^ORCID,Matsumoto Hiroshi²⁷^ORCID,Okamoto Nobuhiko²⁸^ORCID,Okanishi Tohru¹⁴²⁹^ORCID,Oyoshi Yukimi²³,Takeshita Eri²³,Suzuki Toshifumi⁶^ORCID,Ogawa Yoshiyuki³⁰,Handa Hiroshi³⁰^ORCID,Miyazono Yayoi³¹^ORCID,Koshimizu Eriko²,Fujita Atsushi²,Takata Atsushi²^ORCID,Miyake Noriko²^ORCID,Mizuguchi Takeshi²^ORCID,Matsumoto Naomichi²^ORCID

Affiliation:

1. Department of Rare Disease Genomics Yokohama City University Hospital Yokohama Japan

2. Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan

3. BITS Co., Ltd. Tokyo Japan

4. Department of Pediatrics Yokohama City University Graduate School of Medicine Yokohama Japan

5. Clinical Genetics Department Yokohama City University Hospital Yokohama Japan

6. Department of Obstetrics and Gynecology Faculty of Medicine Juntendo University Tokyo Japan

7. Department of Neurology and Stroke Medicine Yokohama City University Graduate School of Medicine Yokohama Japan

8. Department of Pediatrics Showa University School of Medicine Tokyo Japan

9. National Epilepsy Center, NHO Shizuoka Institute of Epilepsy and Neurological Disorders Shizuoka Japan

10. Department of Pediatrics Japanese Red Cross Kyoto Daiichi Hospital Kyoto Japan

11. Department of Child Neurology Okayama University Hospital Okayama Japan

12. Unidade de Genetica do Instituto da Crianca do Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo Sao Paulo Brazil

13. Department of Pediatrics Jichi Medical University, Shimotsuke Japan

14. Department of Brain and Neurosciences, Division of Child Neurology, Faculty of Medicine Tottori University Yonago Japan

15. Department of Genetics Kuala Lumpur Hospital Kuala Lumpur Malaysia

16. Department of Pediatrics Iwate Medical University School of Medicine Morioka Japan

17. Division of Neurology Kanagawa Children's Medical Center Yokohama Japan

18. Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences Tokyo Japan

19. Department of Pediatric Neurology Miyagi Children's Hospital Sendai Japan

20. Department of Pediatrics Yokohama City University Medical Center Yokohama Japan

21. Hiroshima Municipal Center for Child Health and Development Hiroshima Japan

22. Division of Neurology Saitama Children's Medical Center Saitama Japan

23. Department of Child Neurology, National Center Hospital National Center of Neurology and Psychiatry Tokyo Japan

24. Department of Pediatrics Nagaoka Red Cross Hospital Nagaoka Japan

25. Department of Pediatrics Hokkaido University Hospital Sapporo Japan

26. Clinical Genetics Center, Shikoku Medical Center for Children and Adults, National Hospital Organization Kagawa Japan

27. Department of Pediatrics National Defense Medical College Saitama Japan

28. Department of Medical Genetics Osaka Women's and Children's Hospital Osaka Japan

29. Department of Child Neurology Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital Hamamatsu Japan

30. Department of Hematology Gunma University Graduate School of Medicine Gunma Japan

31. Department of Child Health, Faculty of Medicine University of Tsukuba Tsukuba Japan

Funder

Japan Agency for Medical Research and Development

Takeda Science Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24129

Reference52 articles.

1. A global reference for human genetic variation

2. Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms

3. CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

4. Genetic Abnormalities inFOXP1Are Associated with Congenital Heart Defects

5. BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

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