Article
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
Cell reports - 16 Jan 2018
Takata Atsushi, Miyake Noriko, Tsurusaki Yoshinori, Fukai Ryoko, Miyatake Satoko, Koshimizu Eriko, Kushima Itaru, Okada Takashi, Morikawa Mako, Uno Yota, Ishizuka Kanako, Nakamura Kazuhiko, Tsujii Masatsugu, Yoshikawa Takeo, Toyota Tomoko, Okamoto Nobuhiko, Hiraki Yoko, Hashimoto Ryota, Yasuda Yuka, Saitoh Shinji, Ohashi Kei, Sakai Yasunari, Ohga Shouichi, Hara Toshiro, Kato Mitsuhiro, Nakamura Kazuyuki, Ito Aiko, Seiwa Chizuru, Shirahata Emi, Osaka Hitoshi, Matsumoto Ayumi, Takeshita Saoko, Tohyama Jun, Saikusa Tomoko, Matsuishi Toyojiro, Nakamura Takumi, Tsuboi Takashi, Kato Tadafumi, Suzuki Toshifumi, Saitsu Hirotomo, Nakashima Mitsuko, Mizuguchi Takeshi, Tanaka Fumiaki, Mori Norio, Ozaki Norio, Matsumoto Naomichi
Abstract excerpt
Recent studies have established important roles of de novo mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of Japanese origin and confirm the "de novo paradigm" of ASDs across ethnicities. Based on this consistency, we combine the lists of damaging DNMs in our and published ASD cohorts (total number of trios, 4,244) and perform integrative bioinformatics analyses....
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