Search Results - "Yukihide Momozawa"

Unique roles of rare variants in the genetics of complex diseases in humans by Momozawa, Yukihide, Mizukami, Keijiro

“…Genome-wide association studies have identified >10,000 genetic variants associated with various phenotypes and diseases. Although the majority are common…”
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Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing by Kosugi, Shunichi, Momozawa, Yukihide, Liu, Xiaoxi, Terao, Chikashi, Kubo, Michiaki, Kamatani, Yoichiro

“…Structural variations (SVs) or copy number variations (CNVs) greatly impact the functions of the genes encoded in the genome and are responsible for diverse…”
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Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases by Kanai, Masahiro, Akiyama, Masato, Takahashi, Atsushi, Matoba, Nana, Momozawa, Yukihide, Ikeda, Masashi, Iwata, Nakao, Ikegawa, Shiro, Hirata, Makoto, Matsuda, Koichi, Kubo, Michiaki, Okada, Yukinori, Kamatani, Yoichiro

“…Clinical measurements can be viewed as useful intermediate phenotypes to promote understanding of complex human diseases. To acquire comprehensive insights…”
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Characterizing rare and low-frequency height-associated variants in the Japanese population by Akiyama, Masato, Ishigaki, Kazuyoshi, Sakaue, Saori, Momozawa, Yukihide, Horikoshi, Momoko, Hirata, Makoto, Matsuda, Koichi, Ikegawa, Shiro, Takahashi, Atsushi, Kanai, Masahiro, Suzuki, Sadao, Matsui, Daisuke, Naito, Mariko, Yamaji, Taiki, Iwasaki, Motoki, Sawada, Norie, Tanno, Kozo, Sasaki, Makoto, Hozawa, Atsushi, Minegishi, Naoko, Wakai, Kenji, Tsugane, Shoichiro, Shimizu, Atsushi, Yamamoto, Masayuki, Okada, Yukinori, Murakami, Yoshinori, Kubo, Michiaki, Kamatani, Yoichiro

“…Human height is a representative phenotype to elucidate genetic architecture. However, the majority of large studies have been performed in European…”
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Chromosomal alterations among age-related haematopoietic clones in Japan by Terao, Chikashi, Suzuki, Akari, Momozawa, Yukihide, Akiyama, Masato, Ishigaki, Kazuyoshi, Yamamoto, Kazuhiko, Matsuda, Koichi, Murakami, Yoshinori, McCarroll, Steven A., Kubo, Michiaki, Loh, Po-Ru, Kamatani, Yoichiro

“…The extent to which the biology of oncogenesis and ageing are shaped by factors that distinguish human populations is unknown. Haematopoietic clones with…”
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High-throughput functional evaluation of BRCA2 variants of unknown significance by Ikegami, Masachika, Kohsaka, Shinji, Ueno, Toshihide, Momozawa, Yukihide, Inoue, Satoshi, Tamura, Kenji, Shimomura, Akihiko, Hosoya, Noriko, Kobayashi, Hiroshi, Tanaka, Sakae, Mano, Hiroyuki

“…Numerous nontruncating missense variants of the BRCA2 gene have been identified, but there is a lack of convincing evidence, such as familial data,…”
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Genome-wide association study identifies 112 new loci for body mass index in the Japanese population by Akiyama, Masato, Okada, Yukinori, Kanai, Masahiro, Takahashi, Atsushi, Momozawa, Yukihide, Ikeda, Masashi, Iwata, Nakao, Ikegawa, Shiro, Hirata, Makoto, Matsuda, Koichi, Iwasaki, Motoki, Yamaji, Taiki, Sawada, Norie, Hachiya, Tsuyoshi, Tanno, Kozo, Shimizu, Atsushi, Hozawa, Atsushi, Minegishi, Naoko, Tsugane, Shoichiro, Yamamoto, Masayuki, Kubo, Michiaki, Kamatani, Yoichiro

“…Yoichiro Kamatani and colleagues perform a genome-wide association study (GWAS) for body mass index using data from 173,430 Japanese individuals. They find 85…”
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Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls by Momozawa, Yukihide, Iwasaki, Yusuke, Parsons, Michael T., Kamatani, Yoichiro, Takahashi, Atsushi, Tamura, Chieko, Katagiri, Toyomasa, Yoshida, Teruhiko, Nakamura, Seigo, Sugano, Kokichi, Miki, Yoshio, Hirata, Makoto, Matsuda, Koichi, Spurdle, Amanda B., Kubo, Michiaki

“…Pathogenic variants in highly penetrant genes are useful for the diagnosis, therapy, and surveillance for hereditary breast cancer. Large-scale studies are…”
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Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer by Usui, Yoshiaki, Taniyama, Yukari, Endo, Mikiko, Koyanagi, Yuriko N., Kasugai, Yumiko, Oze, Isao, Ito, Hidemi, Imoto, Issei, Tanaka, Tsutomu, Tajika, Masahiro, Niwa, Yasumasa, Iwasaki, Yusuke, Aoi, Tomomi, Hakozaki, Nozomi, Takata, Sadaaki, Suzuki, Kunihiko, Terao, Chikashi, Hatakeyama, Masanori, Hirata, Makoto, Sugano, Kokichi, Yoshida, Teruhiko, Kamatani, Yoichiro, Nakagawa, Hidewaki, Matsuda, Koichi, Murakami, Yoshinori, Spurdle, Amanda B., Matsuo, Keitaro, Momozawa, Yukihide

“…Infection with Helicobacter pylori is known to confer a risk of gastric cancer. In this study, persons who carried certain genetic variants and were infected…”
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Eight novel susceptibility loci and putative causal variants in atopic dermatitis by Tanaka, Nao, Koido, Masaru, Suzuki, Akari, Otomo, Nao, Suetsugu, Hiroyuki, Kochi, Yuta, Tomizuka, Kouhei, Momozawa, Yukihide, Kamatani, Yoichiro, Ikegawa, Shiro, Yamamoto, Kazuhiko, Terao, Chikashi

“…Atopic dermatitis (AD) is the most common allergic disease in the world. While genetic components play critical roles in its pathophysiology, a large…”
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Construction of a population-specific HLA imputation reference panel and its application to Graves' disease risk in Japanese by Okada, Yukinori, Momozawa, Yukihide, Ashikawa, Kyota, Kanai, Masahiro, Matsuda, Koichi, Kamatani, Yoichiro, Takahashi, Atsushi, Kubo, Michiaki

“…Yukinori Okada, Michiaki Kubo and colleagues report the construction of a new HLA imputation reference panel for the Japanese population. They apply this…”
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Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese by Okada, Yukinori, Momozawa, Yukihide, Sakaue, Saori, Kanai, Masahiro, Ishigaki, Kazuyoshi, Akiyama, Masato, Kishikawa, Toshihiro, Arai, Yasumichi, Sasaki, Takashi, Kosaki, Kenjiro, Suematsu, Makoto, Matsuda, Koichi, Yamamoto, Kazuhiko, Kubo, Michiaki, Hirose, Nobuyoshi, Kamatani, Yoichiro

“…Understanding natural selection is crucial to unveiling evolution of modern humans. Here, we report natural selection signatures in the Japanese population…”
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Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data by Kishikawa, Toshihiro, Momozawa, Yukihide, Ozeki, Takeshi, Mushiroda, Taisei, Inohara, Hidenori, Kamatani, Yoichiro, Kubo, Michiaki, Okada, Yukinori

“…In the design of whole-genome sequencing (WGS) studies, sequencing depth is a crucial parameter to define variant calling accuracy and study cost, with no…”
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Diabetes and cancer risk: A Mendelian randomization study by Goto, Atsushi, Yamaji, Taiki, Sawada, Norie, Momozawa, Yukihide, Kamatani, Yoichiro, Kubo, Michiaki, Shimazu, Taichi, Inoue, Manami, Noda, Mitsuhiko, Tsugane, Shoichiro, Iwasaki, Motoki

“…Earlier cohort studies using conventional regression models have consistently shown an increased cancer risk among individuals with type 2 diabetes. However,…”
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Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population by Hirata, Jun, Hosomichi, Kazuyoshi, Sakaue, Saori, Kanai, Masahiro, Nakaoka, Hirofumi, Ishigaki, Kazuyoshi, Suzuki, Ken, Akiyama, Masato, Kishikawa, Toshihiro, Ogawa, Kotaro, Masuda, Tatsuo, Yamamoto, Kenichi, Hirata, Makoto, Matsuda, Koichi, Momozawa, Yukihide, Inoue, Ituro, Kubo, Michiaki, Kamatani, Yoichiro, Okada, Yukinori

“…To perform detailed fine-mapping of the major-histocompatibility-complex region, we conducted next-generation sequencing (NGS)-based typing of the 33 human…”
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Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis by Saiki, Ryunosuke, Momozawa, Yukihide, Nannya, Yasuhito, Nakagawa, Masahiro M., Ochi, Yotaro, Yoshizato, Tetsuichi, Terao, Chikashi, Kuroda, Yutaka, Shiraishi, Yuichi, Chiba, Kenichi, Tanaka, Hiroko, Niida, Atsushi, Imoto, Seiya, Matsuda, Koichi, Morisaki, Takayuki, Murakami, Yoshinori, Kamatani, Yoichiro, Matsuda, Shuichi, Kubo, Michiaki, Miyano, Satoru, Makishima, Hideki, Ogawa, Seishi

“…Clonal hematopoiesis (CH) in apparently healthy individuals is implicated in the development of hematological malignancies (HM) and cardiovascular diseases…”
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Association between germline pathogenic variants in cancer‐predisposing genes and lymphoma risk by Usui, Yoshiaki, Iwasaki, Yusuke, Matsuo, Keitaro, Endo, Mikiko, Kamatani, Yoichiro, Hirata, Makoto, Sugano, Kokichi, Yoshida, Teruhiko, Matsuda, Koichi, Murakami, Yoshinori, Maeda, Yoshinobu, Nakagawa, Hidewaki, Momozawa, Yukihide

“…The application of advanced molecular technology has significantly expanded lymphoma classification, allowing risk stratification and treatment optimization…”
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ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype by Hirabayashi, Shinsuke, Ohki, Kentaro, Nakabayashi, Kazuhiko, Ichikawa, Hitoshi, Momozawa, Yukihide, Okamura, Kohji, Yaguchi, Akinori, Terada, Kazuki, Saito, Yuya, Yoshimi, Ai, Ogata-Kawata, Hiroko, Sakamoto, Hiromi, Kato, Motohiro, Fujimura, Junya, Hino, Moeko, Kinoshita, Akitoshi, Kakuda, Harumi, Kurosawa, Hidemitsu, Kato, Keisuke, Kajiwara, Ryosuke, Moriwaki, Koichi, Morimoto, Tsuyoshi, Nakamura, Kozue, Noguchi, Yasushi, Osumi, Tomoo, Sakashita, Kazuo, Takita, Junko, Yuza, Yuki, Matsuda, Koich, Yoshida, Teruhiko, Matsumoto, Kenji, Hata, Kenichiro, Kubo, Michiaki, Matsubara, Yoichi, Fukushima, Takashi, Koh, Katsuyoshi, Manabe, Atsushi, Ohara, Akira, Kiyokawa, Nobutaka

“…Fusion genes involving ZNF384 have recently been identified in B-cell precursor acute lymphoblastic leukemia, and 7 fusion partners have been reported. We…”
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Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect by Ikeda, Masashi, Takahashi, Atsushi, Kamatani, Yoichiro, Momozawa, Yukihide, Saito, Takeo, Kondo, Kenji, Shimasaki, Ayu, Kawase, Kohei, Sakusabe, Takaya, Iwayama, Yoshimi, Toyota, Tomoko, Wakuda, Tomoyasu, Kikuchi, Mitsuru, Kanahara, Nobuhisa, Yamamori, Hidenaga, Yasuda, Yuka, Watanabe, Yuichiro, Hoya, Satoshi, Aleksic, Branko, Kushima, Itaru, Arai, Heii, Takaki, Manabu, Hattori, Kotaro, Kunugi, Hiroshi, Okahisa, Yuko, Ohnuma, Tohru, Ozaki, Norio, Someya, Toshiyuki, Hashimoto, Ryota, Yoshikawa, Takeo, Kubo, Michiaki, Iwata, Nakao

“…Genome-wide association studies (GWASs) have identified >100 susceptibility loci for schizophrenia (SCZ) and demonstrated that SCZ is a polygenic disorder…”
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GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation by Terao, Chikashi, Momozawa, Yukihide, Ishigaki, Kazuyoshi, Kawakami, Eiryo, Akiyama, Masato, Loh, Po-Ru, Genovese, Giulio, Sugishita, Hiroki, Ohta, Tazro, Hirata, Makoto, Perry, John R. B., Matsuda, Koichi, Murakami, Yoshinori, Kubo, Michiaki, Kamatani, Yoichiro

“…Mosaic loss of chromosome Y (mLOY) is frequently observed in the leukocytes of ageing men. However, the genetic architecture and biological mechanisms…”
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