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

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Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese. ‌ Wael Osman, Yukinori Okada, Yoichiro Kamatani, Michiaki Kubo, Koichi Matsuda, Yusuke Nakamura

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Editorial: Current Status and Future Challenges of Biobank Data Analysis ‌ Tzu-Pin Lu, Yoichiro Kamatani, Gillian Belbin, Taesung Park, Chuhsing Kate Hsiao

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A genome-wide association study identifies a novel candidate locus at the DLGAP1 gene with susceptibility to resistant hypertension in the Japanese population ‌ Yasuo Takahashi, Keiko Yamazaki, Yoichiro Kamatani, Michiaki Kubo, Koichi Matsuda, Satoshi Asai

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A deep learning method for HLA imputation and trans-ethnic MHC fine-mapping of type 1 diabetes ‌ Tatsuhiko Naito, Ken Suzuki, Jun Hirata, Yoichiro Kamatani, Koichi Matsuda, Tatsushi Toda, Yukinori Okada

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Using spatio-temporal surveillance data to test the infectious environment of children before type 1 diabetes diagnosis. ‌ Pierre Bougnères, Sophie Le Fur, Isis-Diab collaborative group, Sophie Valtat, Yoichiro Kamatani, Mark Lathrop, Alain-Jacques Valleron

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Genetic influences on human blood metabolites in the Japanese population ‌ Takeshi Iwasaki, Yoichiro Kamatani, Kazuhiro Sonomura, Shuji Kawaguchi, Takahisa Kawaguchi, Meiko Takahashi, Koichiro Ohmura, Taka-Aki Sato, Fumihiko Matsuda

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Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans. ‌ 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 ‌ 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 ‌ 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 ‌ 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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SARS-CoV-2 ORF6 disrupts nucleocytoplasmic trafficking to advance viral replication ‌ Yoichi Miyamoto, Yumi Itoh, Tatsuya Suzuki, Tomohisa Tanaka, Yusuke Sakai, Masaru Koido, Chiaki Hata, Cai-Xia Wang, Mayumi Otani, Kohji Moriishi, Taro Tachibana, Yoichiro Kamatani, Yoshihiro Yoneda, Toru Okamoto, Masahiro Oka

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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls ‌ 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 ‌ 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 ‌ 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

Ստացեք ամբողջական տեքստը

Improved genetic prediction of the risk of knee osteoarthritis using the risk factor-based polygenic score ‌ Yugo Morita, Yoichiro Kamatani, Hiromu Ito, Shiro Ikegawa, Takahisa Kawaguchi, Shuji Kawaguchi, Meiko Takahashi, Chikashi Terao, Shuji Ito, Kohei Nishitani, Shinichiro Nakamura, Shinichi Kuriyama, Yasuharu Tabara, Fumihiko Matsuda, Shuichi Matsuda, on behalf of the Nagahama study group

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The Natural Metabolite 4-Cresol Improves Glucose Homeostasis and Enhances β-Cell Function ‌ Francois Brial, Fawaz Alzaid, Kazuhiro Sonomura, Yoichiro Kamatani, Kelly Meneyrol, Aurélie Le Lay, Noémie Péan, Lyamine Hedjazi, Taka-Aki Sato, Nicolas Venteclef, Christophe Magnan, Mark Lathrop, Marc-Emmanuel Dumas, Fumihiko Matsuda, Pierre Zalloua, Dominique Gauguier

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Elucidating the genetic architecture of reproductive ageing in the Japanese population ‌ Momoko Horikoshi, Felix R. Day, Masato Akiyama, Makoto Hirata, Yoichiro Kamatani, Koichi Matsuda, Kazuyoshi Ishigaki, Masahiro Kanai, Hollis Wright, Carlos A. Toro, Sergio R. Ojeda, Alejandro Lomniczi, Michiaki Kubo, Ken K. Ong, John. R. B. Perry

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Author Correction: Genetic variants of calcium and vitamin D metabolism in kidney stone disease ‌ Sarah A. Howles, Akira Wiberg, Michelle Goldsworthy, Asha L. Bayliss, Anna K. Gluck, Michael Ng, Emily Grout, Chizu Tanikawa, Yoichiro Kamatani, Chikashi Terao, Atsushi Takahashi, Michiaki Kubo, Koichi Matsuda, Rajesh V. Thakker, Benjamin W. Turney, Dominic Furniss

Ստացեք ամբողջական տեքստը

Genetic variants of calcium and vitamin D metabolism in kidney stone disease ‌ Sarah A. Howles, Akira Wiberg, Michelle Goldsworthy, Asha L. Bayliss, Anna K. Gluck, Michael Ng, Emily Grout, Chizu Tanikawa, Yoichiro Kamatani, Chikashi Terao, Atsushi Takahashi, Michiaki Kubo, Koichi Matsuda, Rajesh V. Thakker, Benjamin W. Turney, Dominic Furniss

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