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

Autor: Masaki Miura, Akihiko Ishiyama, Hiromi Aoi, Akane Kondo, Fumiaki Tanaka, Hiroshi Handa, Yayoi Miyazono, Yuki Hyodo, Yukimi Oyoshi, Satoko Miyatake, Hitoshi Osaka, Naomichi Matsumoto, Kazuhiro Iwama, Lock-Hock Ngu, Tomohide Goto, Long Guo, Noriko Miyake, Naomi Tsuchida, Toshifumi Suzuki, Koichi Tanda, Eriko Koshimizu, Chong Ae Kim, Rachel Sayuri Honjo, Kohei Hamanaka, Tomohiro Sakaguchi, Muzhirah Haniffa, Sachiko Ohori, Yoko Hiraki, Hiromi Fukuda, Shin-ichiro Hamano, Mitsuhiro Kato, Ming Lei, Osamu Kawano, Atsushi Fujita, Ch'ng Gaik Siew, Takeshi Mizuguchi, Toshiyuki Itai, Futoshi Sekiguchi, Yuri Uchiyama, Tohru Okanishi, Takayoshi Koike, Débora Romeo Bertola, Eri Takeshita, Nobuhiko Okamoto, Kazuhiro Haginoya, Masahide Goto, Daisuke Yamaguchi, Hiroshi Matsumoto, Ken Saida, Nozomi Hiraishi, Manami Akasaka, Yoshihiro Maegaki, Shiro Ikegawa, Hiroshi Doi, Masamune Sakamoto, Tetsuya Okazaki, Yoshiyuki Ogawa, Atsushi Takata, Satoru Ikemoto, Yukitoshi Takahashi, Hiroyuki Yamada, Yoshiteru Azuma, Atsuro Daida, Keng Wee Teik

Publikováno v: Human Mutation. 42:50-65

Many algorithms to detect copy number variations (CNVs) using exome sequencing (ES) data have been reported and evaluated on their sensitivity and specificity, reproducibility, and precision. However, operational optimization of such algorithms for a

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https://doi.org/10.1002/humu.24129