Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank

Aye Ko Ko Minn, Motomichi Matsuzaki, Akira Narita, Takamitsu Funayama, Yurii Kotsar, Satoshi Makino, Jun Takayama, Hikaru Abe, Michiaki Abe, Momoka Abe, Naomi Abe, Noriko Abe, Tomomi Abe, Yuto Abe, Shizuko Ahiko, Kayo Aiki, Hiromi Aizawa, Yukari Akiyama, Hayato Anzawa, Eri Aoki, Yuichi Aoki, Hiroko Arai, Misaki Arakawa, Yukie Asano, Liam Baird, Ayano Chiba, Haruna Chiba, Ippei Chiba, Kenji Chiba, Keiko Chida, Inaho Danjoh, Hisako Endo, Reika Fue, Futaba Fujishiro, Yayoi Fujita, Waka Fukunaga, Takuo Fukushi, Mami Funata, Sho Furuhashi, Nobuo Fuse, Kumiko Fushiya, Tomomi Gamo, Chinatsu Gocho, Katsuhiro Gonoi, Maki Goto, Takahiko Goto, Yukie Goto, Kaori Gouko, Michiko Haga, Yoko Haga, Yuko Hamada, Yohei Hamanaka, Mika Hanazawa, Yukari Hara, Hisano Hasebe, Atsushi Hasegawa, Hiroaki Hashizume, Asuka Hatakeyama, Sumika Hatakeyama, Nozomi Hatanaka, Rieko Hatanaka, Takanori Hidaka, Kenji Hino, Hiroe Hirama, Ikuo Hirano, Sachiko Hirano, Takumi Hirata, Masahiro Hiratsuka, Yuki Hiratsuka, Ikuko Hirayama, Eiji Hishinuma, Atsushi Hozawa, Keisuke Ido, Nobuko Igari, Chikako Iida, Katsuko Imai, Makiko Inoue, Marie Inoue, Reiko Inoue, Rumi Irie, Motoko Ishida, Noriko Ishida, Eri Ishigaka, Chihiro Ishii, Osamu Ishii, Tadashi Ishii, Tatsuro Ishikawa, Mami Ishikuro, Kazutoshi Ishimori, Ryosuke Ishiwata, Miho Itabashi, Maiko Ito, Masumi Ito, Mayumi Ito, Rie Ito, Saori Ito, Fumihiko Iwabuchi, Maki Iwabuchi, Yoko Izumi, Yoshiko Izumi, Masataka Kambe, Kanako Watanabe, Takanari Kanno, Mayu Kano, Naoko Kasahara, Hinako Kashiwa, Kiyomi Katahira, Mayumi Kato, Yukie Kato, Fumiki Katsuoka, Takeshi Kawabata, Rika Kawada, Aoi Kawagoe, Hiroshi Kawame, Junko Kawashima, Yukako Kawashima, Junko Kikuchi, Masahiro Kikuya, Masae Kimura, Kengo Kinoshita, Ikuko Kishi, Tomoko Kishimoto, Tamie Kitaura, Mika Kobayashi, Tadao Kobayashi, Tomoko Kobayashi, Eiichi N. Kodama, Shun Kodate, Mana Kogure, Toshisada Kohagizawa, Naomi Kohketsu, Noa Koida, Chie Koide, Mika Koide, Toshihiko Koike, Shohei Koiso, Kaname Kojima, Junko Komatsu, Ayumi Kondo, Yukie Konno, Sachie Koreeda, Seizo Koshiba, Takuya Koyama, Hisaaki Kudo, Kazuki Kumada, Ryoko Kumadaki, Rika Kumagai, Toshie Kumagai, Yuko Kumagai, Yasuto Kunii, Miho Kuriki, Shinichi Kuriyama, Miyuki Kuroda, Emiko Kurokawa, Seiko Kurota, Hisako Kusano, Bin Li, Donghan Li, Kanako Maeshibu, Keiko Maeta, Hiroko Matsubara, Naomi Matsukawa, Masako Matsumoto, Takako Matsuoka, Yuka Matsushita, Fumiko Matsuzaki, Hirohito Metoki, Sayaka Minakawa, Yuki Minami, Kyoko Mitate, Satomi Mito, Ayako Miura, Noriko Miura, Ryo Miyagi, Akiko Miyazawa, Satoshi Mizuno, Akiko Mochida, Mika Momii, Hiroko Mori, Naoko Mori, Hozumi Motohashi, Ikuko N. Motoike, Shunji Mugikura, Keiko Murakami, Takahisa Murakami, Toshiro Muranishi, Masato Nagai, Satoshi Nagaie, Fuji Nagami, Tatsuo Nagasaka, Sachiko Nagase, Kumiko Nakagawa, Taku Nakai, Noriko Nakajo, Naoki Nakamura, Tomohiro Nakamura, Yuko Nakasato, Kumi Nakaya, Naoki Nakaya, Kei Nanatani, Natsuko Narisawa, Yuka Narita, Hafumi Nishi, Kohji Nishida, Ichiko Nishijima, Takahiro Nobukuni, Kotaro Nochioka, Aoi Noda, Kenichi Noguchi, Kiriko Nozoe, Rie Nunokawa, Taku Obara, Tomoko Obara, Kaori Ogasawara, Satoru Ogawa, Soichi Ogishima, Nahoko Ohi, Namiko Ohisa, Kinuko Ohneda, Hayami Ohori, Yumi Oikawa, Yumiko Ojima, Yumi Okada, Yasunobu Okamura, Hiroshi Okuda, Mitsuko Okuda, Ayako Okumoto, Akane Ono, Chiaki Ono, Genki Onodera, Kaname Onodera, Masako Onodera, Midori Onuma, Tomomi Onuma, Keiichiro Oohashi, Masumi Oomachi, Kazuya Ootomo, Yukie Oouchi, Kazuko Oowada, Masatsugu Orui, Mayumi Osada, Tamae Osanai, Reiko Ota, Noriko Otake, Sumie Otomo, Tatsui Otsuka, Akihito Otsuki, Yoko Otsuki, Yuki Oyama, Keiko Oyamada, Masahiro Ozawa, Yoko Ozawa, Satomi Obara, Daisuke Saigusa, Asami Saito, Asuka Saito, Hisako Saito, Kazue Saito, Manami Saito, Megumi Saito, Ritsumi Saito, Sakae Saito, Tomo Saito, Yoshinobu Saitoh, Hiroko Sakai, Masaki Sakaida, Hiroshi Sakamono, Hiromi Sakamoto, Kana Sakamoto, Mia Sakamoto, Kasumi Sakurai, Miyuki Sakurai, Rieko Sakurai, Mika Sakurai-Yageta, Eriko Sasaki, Kana Sasaki, Miho Sasaki, Tadashi Sasaki, Yukari Sasaki, Yukie Sasaki, Akemi Sato, Chika Sato, Hirokazu Sato, Mayumi Sato, Michiyo Sato, Miho Sato, Mitsuharu Sato, Miu Sato, Naoko Sato, Reiko Sato, Satoshi Sato, Shiho Sato, Taku Sato, Yoshiko Sato, Youko Sato, Yui Sato, Yuriko Sato, Michihiro Satoh, Ayako Sekiya, Koji Shibuya, Hirohito Shima, Yoshiko Shima, Muneaki Shimada, Atsushi Shimizu, Ritsuko Shimizu, Genki Shinoda, Nobuyuki Shirakawa, Matsuyuki Shirota, Hiroe Shoji, Ikuko Shoji, Mariko Shoji, Midori Shoji, Wakako Shoji, Satomi Someya, Shinya Sonobe, Itsumi Sou, Rie Suenaga, Yasuko Suenaga, Mayumi Suga, Rika Sugai, Junichi Sugawara, Megumi Sugawara, Michiko Sugawara, Nanako Sugawara, Saori Sugawara, Yuki Sugawara, Sachiyo Sugimoto, Yoshiko Suto, Airi Suzuki, Ayano Suzuki, Keiko P. Suzuki, Mariko Suzuki, Michirou Suzuki, Mikiko Suzuki, Norio Suzuki, Rie Suzuki, Ryoko Suzuki, Takafumi Suzuki, Tatsuya Suzuki, Yoichi Suzuki, Kaho Sato, Shu Tadaka, Keiko Taguchi, Nozomi Taiji, Makiko Taira, Kaori Takagi, Emi Takahashi, Harumi Takahashi, Junko Takahashi, Megumi Takahashi, Noriko Takahashi, Rieko Takahashi, Yukiko Takahashi, Mayuko Takasawa, Miho Takeuchi, Yoshinobu Takeyama, Sayaka Takita, Toru Tamahara, Gen Tamiya, Naomi Tamura, Akari Tanaka, Saiko Tanaka, Chihiro Tanno, Naoko Tanno, Keiko Tateno, Minoru Tateno, Chika Terui, Yuriko Tezuka, Mihoko Toki, Etsuko Tomita, Hiroaki Tomita, Mai Tomizuka, Akiko Toriyama, Naho Tsuchiya, Miyuki Tsuda, Tomomi Tsumuraya, Junko Tsunasawa, Issei Tsunoda, Juri Uchiya, Akiko Ueda, Yuriko Ueki, Fumihiko Ueno, Rumi Ujiie, Keiko Umeda, Akira Uruno, Ikuko Wada, Tomoko Wada, Mika Wagatsuma, Hitoshi Watanabe, Kazue Watanabe, Nobuo Yaegashi, Mika Yagyu, Etsuko Yamada, Yumi Yamaguchi-Kabata, Masayuki Yamamoto, Tomiko Yamauchi, Yukari Yamauchi, Mika Yamazaki, Kenji Yano, Jun Yasuda, Hang Yin, Hiroshi Yokota, Manami Yokoyama, Yuko Yoshida, Mizue Yoshino, Zhiqian Yu, Yoshiyuki Yukawa, Lin Zhang, Makoto Sasaki, Akimune Fukushima, Yasushi Ishigaki, Koichi Asahi, Ryoichi Tanaka, Kozo Tanno, Kotaro Otsuka, Fumie Aizawa, Naoyuki Nishiya, Mitsuko Iwabuchi, Fumitaka Tanaka, Shinichi Omama, Kouhei Hashizume, Noriko Takebe, Kazuhiro Yoshikawa, Yuka Kotozaki, Takahiro Mikami, Takahito Nasu, Junko Akai, Yorihiro Koeda, Yohei Sawa, Nobuyuki Takanashi, Yayoi Yamasaki, Haruki Terui, Kasumi Hannokizawa, Hideki Ohmomo, Shohei Komaki, Mamoru Satoh, Yoichi Sutoh, Fumio Yamashita, Yutaka Hasegawa, Shiori Minabe, Tsuyoshi Hachiya, Tomoharu Tokutomi, Yukiko Toya, Akiko Yoshida, Satoshi Nishizuka, Ryujin Endo

doi:10.1038/s10038-025-01331-3

<jats:title>Abstract</jats:title> <jats:p>Runs of homozygosity (ROHs) are widely observed across the genomes of various species and have been reported to be associated with many traits and common diseases, as well as rare recessive diseases, in human populations. Although single nucleotide polymorphism (SNP) array data have been used in previous studies on ROHs, recent advances in whole-genome sequencing (WGS) technologies and the development of nationwide cohorts/biobanks are making high-density genomic data increasingly available, and it is consequently becoming more feasible to detect ROHs at higher resolution. In the study, we searched for ROHs in two high-coverage WGS datasets from 3552 Japanese individuals and 192 three-generation families (consisting of 1120 family members) in prospective genomic cohorts. The results showed that a considerable number of ROHs, especially short ones that may have remained undetected in conventionally used SNP-array data, can be detected in the WGS data. By filtering out sequencing errors and leveraging pedigree information, longer ROHs are more likely to be detected in WGS data than in SNP-array data. Additionally, we identified gene families within ROH islands that are associated with enriched pathways related to sensory perception of taste and odors, suggesting potential signatures of selection in these key genomic regions.</jats:p>

Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank

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収録刊行物

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Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobank

書誌事項

この論文をさがす

説明

収録刊行物

参考文献 (36)*注記

関連プロジェクト

関連未分類成果物

詳細情報 詳細情報について

書き出し

問題の指摘

詳細情報詳細情報について