Practical guide for managing large-scale human genome data in research von Tanjo, Tomoya, Kawai, Yosuke, Tokunaga, Katsushi, Ogasawara, Osamu, Nagasaki, Masao

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A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing von Mizuguchi, Takeshi, Suzuki, Takeshi, Abe, Chihiro, Umemura, Ayako, Tokunaga, Katsushi, Kawai, Yosuke, Nakamura, Minoru, Nagasaki, Masao, Kinoshita, Kengo, Okamura, Yasunobu, Miyatake, Satoko, Miyake, Noriko, Matsumoto, Naomichi

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3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome von Tadaka, Shu, Katsuoka, Fumiki, Ueki, Masao, Kojima, Kaname, Makino, Satoshi, Saito, Sakae, Otsuki, Akihito, Gocho, Chinatsu, Sakurai-Yageta, Mika, Danjoh, Inaho, Motoike, Ikuko N., Yamaguchi-Kabata, Yumi, Shirota, Matsuyuki, Koshiba, Seizo, Nagasaki, Masao, Minegishi, Naoko, Hozawa, Atsushi, Kuriyama, Shinichi, Shimizu, Atsushi, Yasuda, Jun, Fuse, Nobuo, Tamiya, Gen, Yamamoto, Masayuki, Kinoshita, Kengo

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Frequent pathway mutations of splicing machinery in myelodysplasia von Yoshida, Kenichi, Sanada, Masashi, Shiraishi, Yuichi, Nowak, Daniel, Nagata, Yasunobu, Yamamoto, Ryo, Sato, Yusuke, Sato-Otsubo, Aiko, Kon, Ayana, Nagasaki, Masao, Chalkidis, George, Suzuki, Yutaka, Shiosaka, Masashi, Kawahata, Ryoichiro, Yamaguchi, Tomoyuki, Otsu, Makoto, Obara, Naoshi, Sakata-Yanagimoto, Mamiko, Ishiyama, Ken, Mori, Hiraku, Nolte, Florian, Hofmann, Wolf-Karsten, Miyawaki, Shuichi, Sugano, Sumio, Haferlach, Claudia, Koeffler, H. Phillip, Shih, Lee-Yung, Haferlach, Torsten, Chiba, Shigeru, Nakauchi, Hiromitsu, Miyano, Satoru, Ogawa, Seishi

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Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals von Kawai, Yosuke, Mimori, Takahiro, Kojima, Kaname, Nariai, Naoki, Danjoh, Inaho, Saito, Rumiko, Yasuda, Jun, Yamamoto, Masayuki, Nagasaki, Masao

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The Dynamics of Transcriptional Activation by Hepatic Reprogramming Factors von Horisawa, Kenichi, Udono, Miyako, Ueno, Kazuko, Ohkawa, Yasuyuki, Nagasaki, Masao, Sekiya, Sayaka, Suzuki, Atsushi

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A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies von Kohda, Masakazu, Tokuzawa, Yoshimi, Kishita, Yoshihito, Nyuzuki, Hiromi, Moriyama, Yohsuke, Mizuno, Yosuke, Hirata, Tomoko, Yatsuka, Yukiko, Yamashita-Sugahara, Yzumi, Nakachi, Yutaka, Kato, Hidemasa, Okuda, Akihiko, Tamaru, Shunsuke, Borna, Nurun Nahar, Banshoya, Kengo, Aigaki, Toshiro, Sato-Miyata, Yukiko, Ohnuma, Kohei, Suzuki, Tsutomu, Nagao, Asuteka, Maehata, Hazuki, Matsuda, Fumihiko, Higasa, Koichiro, Nagasaki, Masao, Yasuda, Jun, Yamamoto, Masayuki, Fushimi, Takuya, Shimura, Masaru, Kaiho-Ichimoto, Keiko, Harashima, Hiroko, Yamazaki, Taro, Mori, Masato, Murayama, Kei, Ohtake, Akira, Okazaki, Yasushi

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CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome von Sugawara, Yuka, Kato, Hideki, Nagasaki, Masao, Yoshida, Yoko, Fujisawa, Madoka, Minegishi, Naoko, Yamamoto, Masayuki, Nangaku, Masaomi

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Direct reprogramming of human umbilical vein- and peripheral blood-derived endothelial cells into hepatic progenitor cells von Inada, Hiroki, Udono, Miyako, Matsuda-Ito, Kanae, Horisawa, Kenichi, Ohkawa, Yasuyuki, Miura, Shizuka, Goya, Takeshi, Yamamoto, Junpei, Nagasaki, Masao, Ueno, Kazuko, Saitou, Daisuke, Suyama, Mikita, Maehara, Yoshihiko, Kumamaru, Wataru, Ogawa, Yoshihiro, Sekiya, Sayaka, Suzuki, Atsushi

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Contribution of Rare Variants of the SLC22A12 Gene to the Missing Heritability of Serum Urate Levels von Misawa, Kazuharu, Hasegawa, Takanori, Mishima, Eikan, Jutabha, Promsuk, Ouchi, Motoshi, Kojima, Kaname, Kawai, Yosuke, Matsuo, Masafumi, Anzai, Naohiko, Nagasaki, Masao

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Time-Series Filtering for Replicated Observations via a Kernel Approximate Bayesian Computation von Hasegawa, Takanori, Kojima, Kaname, Kawai, Yosuke, Nagasaki, Masao

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rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis von Hitomi, Yuki, Aiba, Yoshihiro, Kawai, Yosuke, Kojima, Kaname, Ueno, Kazuko, Nishida, Nao, Kawashima, Minae, Gervais, Olivier, Khor, Seik-Soon, Nagasaki, Masao, Tokunaga, Katsushi, Nakamura, Minoru, Tsuiji, Makoto

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NUDT15 codon 139 is the best pharmacogenetic marker for predicting thiopurine-induced severe adverse events in Japanese patients with inflammatory bowel disease: a multicenter stud... von Kakuta, Yoichi, Kawai, Yosuke, Okamoto, Daisuke, Takagawa, Tetsuya, Ikeya, Kentaro, Sakuraba, Hirotake, Nishida, Atsushi, Nakagawa, Shoko, Miura, Miki, Toyonaga, Takahiko, Onodera, Kei, Shinozaki, Masaru, Ishiguro, Yoh, Mizuno, Shinta, Takahara, Masahiro, Yanai, Shunichi, Hokari, Ryota, Nakagawa, Tomoo, Araki, Hiroshi, Motoya, Satoshi, Naito, Takeo, Moroi, Rintaro, Shiga, Hisashi, Endo, Katsuya, Kobayashi, Taku, Naganuma, Makoto, Hiraoka, Sakiko, Matsumoto, Takayuki, Nakamura, Shiro, Nakase, Hiroshi, Hisamatsu, Tadakazu, Sasaki, Makoto, Hanai, Hiroyuki, Andoh, Akira, Nagasaki, Masao, Kinouchi, Yoshitaka, Shimosegawa, Tooru, Masamune, Atsushi, Suzuki, Yasuo

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Machine learning approaches to predict gestational age in normal and complicated pregnancies via urinary metabolomics analysis von Yamauchi, Takafumi, Ochi, Daisuke, Matsukawa, Naomi, Saigusa, Daisuke, Ishikuro, Mami, Obara, Taku, Tsunemoto, Yoshiki, Kumatani, Satsuki, Yamashita, Riu, Tanabe, Osamu, Minegishi, Naoko, Koshiba, Seizo, Metoki, Hirohito, Kuriyama, Shinichi, Yaegashi, Nobuo, Yamamoto, Masayuki, Nagasaki, Masao, Hiyama, Satoshi, Sugawara, Junichi

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Comparison of Boiling and Robotics Automation Method in DNA Extraction for Metagenomic Sequencing of Human Oral Microbes von Yamagishi, Junya, Sato, Yukuto, Shinozaki, Natsuko, Ye, Bin, Tsuboi, Akito, Nagasaki, Masao, Yamashita, Riu

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HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data von Nariai, Naoki, Kojima, Kaname, Saito, Sakae, Mimori, Takahiro, Sato, Yukuto, Kawai, Yosuke, Yamaguchi-Kabata, Yumi, Yasuda, Jun, Nagasaki, Masao

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rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases von Hitomi, Yuki, Ueno, Kazuko, Aiba, Yoshihiro, Nishida, Nao, Kawai, Yosuke, Kawashima, Minae, Khor, Seik-Soon, Takada, Sanami, Iwabuchi, Chisato, Nagasaki, Masao, Tokunaga, Katsushi, Nakamura, Minoru

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Inter-Individual Differences in the Oral Bacteriome Are Greater than Intra-Day Fluctuations in Individuals von Sato, Yukuto, Yamagishi, Junya, Yamashita, Riu, Shinozaki, Natsuko, Ye, Bin, Yamada, Takuji, Yamamoto, Masayuki, Nagasaki, Masao, Tsuboi, Akito

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Precise immunofluorescence canceling for highly multiplexed imaging to capture specific cell states von Tomimatsu, Kosuke, Fujii, Takeru, Bise, Ryoma, Hosoda, Kazufumi, Taniguchi, Yosuke, Ochiai, Hiroshi, Ohishi, Hiroaki, Ando, Kanta, Minami, Ryoma, Tanaka, Kaori, Tachibana, Taro, Mori, Seiichi, Harada, Akihito, Maehara, Kazumitsu, Nagasaki, Masao, Uchida, Seiichi, Kimura, Hiroshi, Narita, Masashi, Ohkawa, Yasuyuki

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Epidermal growth factor receptor tyrosine kinase defines critical prognostic genes of stage I lung adenocarcinoma von Yamauchi, Mai, Yamaguchi, Rui, Nakata, Asuka, Kohno, Takashi, Nagasaki, Masao, Shimamura, Teppei, Imoto, Seiya, Saito, Ayumu, Ueno, Kazuko, Hatanaka, Yousuke, Yoshida, Ryo, Higuchi, Tomoyuki, Nomura, Masaharu, Beer, David G, Yokota, Jun, Miyano, Satoru, Gotoh, Noriko

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