Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing by Shunichi Kosugi, Yukihide Momozawa, Xiaoxi Liu, Chikashi Terao, Michiaki Kubo, Yoichiro Kamatani

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Federated analysis of BRCA1 and BRCA2 variation in a Japanese cohort by James Casaletto, Michael Parsons, Charles Markello, Yusuke Iwasaki, Yukihide Momozawa, Amanda B. Spurdle, Melissa Cline

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Relationship of hemoglobin level and plasma coproporphyrin‐I concentrations as an endogenous probe for phenotyping OATP1B by Yosuke Suzuki, Yuri Sasamoto, Teruhide Koyama, Chisato Yoshijima, Ayako Oda, Masahiro Nakatochi, Michiaki Kubo, Yukihide Momozawa, Ritei Uehara, Keiko Ohno

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High-throughput functional evaluation of BRCA2 variants of unknown significance by Masachika Ikegami, Shinji Kohsaka, Toshihide Ueno, Yukihide Momozawa, Satoshi Inoue, Kenji Tamura, Akihiko Shimomura, Noriko Hosoya, Hiroshi Kobayashi, Sakae Tanaka, Hiroyuki Mano

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Direct comparison of retinal structure and function in retinitis pigmentosa by co-registering microperimetry and optical coherence tomography. by Jun Funatsu, Yusuke Murakami, Shunji Nakatake, Masato Akiyama, Kohta Fujiwara, Shotaro Shimokawa, Takashi Tachibana, Toshio Hisatomi, Yoshito Koyanagi, Yukihide Momozawa, Koh-Hei Sonoda, Yasuhiro Ikeda

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Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans. by Hideki Mutai, Koichiro Wasano, Yukihide Momozawa, Yoichiro Kamatani, Fuyuki Miya, Sawako Masuda, Noriko Morimoto, Kiyomitsu Nara, Satoe Takahashi, Tatsuhiko Tsunoda, Kazuaki Homma, Michiaki Kubo, Tatsuo Matsunaga

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Genetic characterization of pancreatic cancer patients and prediction of carrier status of germline pathogenic variants in cancer-predisposing genes by Keijiro Mizukami, Yusuke Iwasaki, Eiryo Kawakami, Makoto Hirata, Yoichiro Kamatani, Koichi Matsuda, Mikiko Endo, Kokichi Sugano, Teruhiko Yoshida, Yoshinori Murakami, Hidewaki Nakagawa, Amanda B. Spurdle, Yukihide Momozawa

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Genome-wide association study reveals BET1L associated with survival time in the 137,693 Japanese individuals by Masato Akiyama, Saori Sakaue, Atsushi Takahashi, Kazuyoshi Ishigaki, Makoto Hirata, Koichi Matsuda, Yukihide Momozawa, Yukinori Okada, Toshiharu Ninomiya, The Biobank Japan project, Chikashi Terao, Yoshinori Murakami, Michiaki Kubo, Yoichiro Kamatani

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Citrullination of RGG Motifs in FET Proteins by PAD4 Regulates Protein Aggregation and ALS Susceptibility by Chizu Tanikawa, Koji Ueda, Akari Suzuki, Aritoshi Iida, Ryoichi Nakamura, Naoki Atsuta, Genki Tohnai, Gen Sobue, Naomi Saichi, Yukihide Momozawa, Yoichiro Kamatani, Michiaki Kubo, Kazuhiko Yamamoto, Yusuke Nakamura, Koichi Matsuda

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Evaluation of the usefulness of plasma 4β‐hydroxycholesterol concentration normalized by 4α‐hydroxycholesterol for accurate CYP3A phenotyping by Ayako Oda, Yosuke Suzuki, Haruki Sato, Teruhide Koyama, Masahiro Nakatochi, Yukihide Momozawa, Ryota Tanaka, Hiroyuki Ono, Ryosuke Tatsuta, Tadasuke Ando, Toshitaka Shin, Kenji Wakai, Keitaro Matsuo, Hiroki Itoh, Keiko Ohno

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls by Yukihide Momozawa, Yusuke Iwasaki, Michael T. Parsons, Yoichiro Kamatani, Atsushi Takahashi, Chieko Tamura, Toyomasa Katagiri, Teruhiko Yoshida, Seigo Nakamura, Kokichi Sugano, Yoshio Miki, Makoto Hirata, Koichi Matsuda, Amanda B. Spurdle, Michiaki Kubo

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Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese by Yukinori Okada, Yukihide Momozawa, Saori Sakaue, Masahiro Kanai, Kazuyoshi Ishigaki, Masato Akiyama, Toshihiro Kishikawa, Yasumichi Arai, Takashi Sasaki, Kenjiro Kosaki, Makoto Suematsu, Koichi Matsuda, Kazuhiko Yamamoto, Michiaki Kubo, Nobuyoshi Hirose, Yoichiro Kamatani

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GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation by Chikashi Terao, Yukihide Momozawa, Kazuyoshi Ishigaki, Eiryo Kawakami, Masato Akiyama, Po-Ru Loh, Giulio Genovese, Hiroki Sugishita, Tazro Ohta, Makoto Hirata, John R. B. Perry, Koichi Matsuda, Yoshinori Murakami, Michiaki Kubo, Yoichiro Kamatani

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Comprehensive investigation of gene mutations in canine large cell gastrointestinal lymphoma by Naoki Matsumura, Takumi Tsuruta, Yuko Goto-Koshino, Keijiro Mizukami, Tomomi Aoi, Ryoko Yamada, Yuki Matsumoto, Itsuma Nagao, Megumi Sakamoto, Taisuke Nakagawa, Ray Fukuoka, Aki Ohmi, James K. Chambers, Kazuyuki Uchida, Yukihide Momozawa, Hirotaka Tomiyasu

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Association of 25-hydroxyvitamin D with risk of overall and colorectal cancer among Japanese using a Mendelian randomization approach by Ryoko Katagiri, Atsushi Goto, Shiori Nakano, Masahiro Nakatochi, Yuriko N. Koyanagi, Masao Iwagami, Akiko Hanyuda, Taiki Yamaji, Norie Sawada, Yohko Nakamura, Sho Nakamura, Kiyonori Kuriki, Sadao Suzuki, Issei Imoto, Yukihide Momozawa, Isao Oze, Hidemi Ito, Shoichiro Tsugane, Kenji Wakai, Keitaro Matsuo, Motoki Iwasaki

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CCDC88B is required for pathogenesis of inflammatory bowel disease by Nassima Fodil, Neda Moradin, Vicki Leung, Jean-Frederic Olivier, Irena Radovanovic, Thiviya Jeyakumar, Manuel Flores Molina, Ashley McFarquhar, Romain Cayrol, Dominique Bozec, Naglaa H. Shoukry, Michiaki Kubo, Julia Dimitrieva, Edouard Louis, Emilie Theatre, Stephanie Dahan, Yukihide Momozawa, Michel Georges, Garabet Yeretssian, Philippe Gros

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Population-specific reference panel improves imputation quality for genome-wide association studies conducted on the Japanese population by Jack Flanagan, Xiaoxi Liu, David Ortega-Reyes, Kohei Tomizuka, Nana Matoba, Masato Akiyama, Masaru Koido, Kazuyoshi Ishigaki, Kyota Ashikawa, Sadaaki Takata, MingYang Shi, Tomomi Aoi, Yukihide Momozawa, Kaoru Ito, Yoshinori Murakami, Koichi Matsuda, The Biobank Japan Project, Yoichiro Kamatani, Andrew P. Morris, Momoko Horikoshi, Chikashi Terao

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Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population by Yoshihiko Furuta, Masato Akiyama, Naoki Hirabayashi, Takanori Honda, Mao Shibata, Tomoyuki Ohara, Jun Hata, Chikashi Terao, Yukihide Momozawa, Yasuko Tatewaki, Yasuyuki Taki, Shigeyuki Nakaji, Tetsuya Maeda, Kenjiro Ono, Masaru Mimura, Kenji Nakashima, Jun-ichi Iga, Minoru Takebayashi, Toshiharu Ninomiya, On behalf of the Japan Prospective Studies for Aging and Dementia (JPSC-AD) Study Group

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Endogenization and excision of human herpesvirus 6 in human genomes. by Xiaoxi Liu, Shunichi Kosugi, Rie Koide, Yoshiki Kawamura, Jumpei Ito, Hiroki Miura, Nana Matoba, Motomichi Matsuzaki, Masashi Fujita, Anselmo Jiro Kamada, Hidewaki Nakagawa, Gen Tamiya, Koichi Matsuda, Yoshinori Murakami, Michiaki Kubo, Amr Aswad, Kei Sato, Yukihide Momozawa, Jun Ohashi, Chikashi Terao, Tetsushi Yoshikawa, Nicholas F Parrish, Yoichiro Kamatani

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Susceptibility loci and polygenic architecture highlight population specific and common genetic features in inguinal hernias by Keiko Hikino, M.D., Ph.D, Masaru Koido, Ph.D., Kohei Tomizuka, B.S., Xiaoxi Liu, Ph.D., Yukihide Momozawa, D.V.M., Ph.D., Takayuki Morisaki, M.D., Ph.D., Yoshinori Murakami, M.D., Ph.D., The Biobank Japan Project, Taisei Mushiroda, Ph.D., Chikashi Terao, M.D., Ph.D.

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