TIGAR2: sensitive and accurate estimation of transcript isoform expression with longer RNA-Seq reads

por Nariai, Naoki, Kojima, Kaname, Mimori, Takahiro, Sato, Yukuto, Kawai, Yosuke, Yamaguchi-Kabata, Yumi, Nagasaki, Masao
Publicado 2014

Estimating copy numbers of alleles from population-scale high-throughput sequencing data

por Mimori, Takahiro, Nariai, Naoki, Kojima, Kaname, Sato, Yukuto, Kawai, Yosuke, Yamaguchi-Kabata, Yumi, Nagasaki, Masao
Publicado 2015

Distribution and Effects of Nonsense Polymorphisms in Human Genes

por Yamaguchi-Kabata, Yumi, Shimada, Makoto K., Hayakawa, Yosuke, Minoshima, Shinsei, Chakraborty, Ranajit, Gojobori, Takashi, Imanishi, Tadashi
Publicado 2008

iSVP: an integrated structural variant calling pipeline from high-throughput sequencing data

por Mimori, Takahiro, Nariai, Naoki, Kojima, Kaname, Takahashi, Mamoru, Ono, Akira, Sato, Yukuto, Yamaguchi-Kabata, Yumi, Nagasaki, Masao
Publicado 2013

SUGAR: graphical user interface-based data refiner for high-throughput DNA sequencing

por Sato, Yukuto, Kojima, Kaname, Nariai, Naoki, Yamaguchi-Kabata, Yumi, Kawai, Yosuke, Takahashi, Mamoru, Mimori, Takahiro, Nagasaki, Masao
Publicado 2014

HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data

por Nariai, Naoki, Kojima, Kaname, Saito, Sakae, Mimori, Takahiro, Sato, Yukuto, Kawai, Yosuke, Yamaguchi-Kabata, Yumi, Yasuda, Jun, Nagasaki, Masao
Publicado 2015

VarySysDB: a human genetic polymorphism database based on all H-InvDB transcripts

por Shimada, Makoto K., Matsumoto, Ryuzou, Hayakawa, Yosuke, Sanbonmatsu, Ryoko, Gough, Craig, Yamaguchi-Kabata, Yumi, Yamasaki, Chisato, Imanishi, Tadashi, Gojobori, Takashi
Publicado 2009

iJGVD: an integrative Japanese genome variation database based on whole-genome sequencing

por Yamaguchi-Kabata, Yumi, Nariai, Naoki, Kawai, Yosuke, Sato, Yukuto, Kojima, Kaname, Tateno, Minoru, Katsuoka, Fumiki, Yasuda, Jun, Yamamoto, Masayuki, Nagasaki, Masao
Publicado 2015

Corticotropin-Releasing Hormone Receptor 2 Gene Variants in Irritable Bowel Syndrome

por Komuro, Hazuki, Sato, Naoko, Sasaki, Ayaka, Suzuki, Naoki, Kano, Michiko, Tanaka, Yukari, Yamaguchi-Kabata, Yumi, Kanazawa, Motoyori, Warita, Hitoshi, Aoki, Masashi, Fukudo, Shin
Publicado 2016

Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-ge...

por Nagaoka, Shinichi, Yamaguchi-Kabata, Yumi, Shiga, Naomi, Tachibana, Masahito, Yasuda, Jun, Tadaka, Shu, Tamiya, Gen, Fuse, Nobuo, Kinoshita, Kengo, Kure, Shigeo, Murotsuki, Jun, Yamamoto, Masayuki, Yaegashi, Nobuo, Sugawara, Junichi
Publicado 2021

Integrated analysis of human genetic association study and mouse transcriptome suggests LBH and SHF genes as novel susceptible genes for amyloid-β accumulation in Alzheimer’s disea...

por Yamaguchi-Kabata, Yumi, Morihara, Takashi, Ohara, Tomoyuki, Ninomiya, Toshiharu, Takahashi, Atsushi, Akatsu, Hiroyasu, Hashizume, Yoshio, Hayashi, Noriyuki, Shigemizu, Daichi, Boroevich, Keith A., Ikeda, Manabu, Kubo, Michiaki, Takeda, Masatoshi, Tsunoda, Tatsuhiko
Publicado 2018

Prediction of Protein-Destabilizing Polymorphisms by Manual Curation with Protein Structure

por Gough, Craig Alan, Homma, Keiichi, Yamaguchi-Kabata, Yumi, Shimada, Makoto K., Chakraborty, Ranajit, Fujii, Yasuyuki, Iwama, Hisakazu, Minoshima, Shinsei, Sakamoto, Shigetaka, Sato, Yoshiharu, Suzuki, Yoshiyuki, Tada-Umezaki, Masahito, Nishikawa, Ken, Imanishi, Tadashi, Gojobori, Takashi
Publicado 2012

Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals

por Shiga, Naomi, Yamaguchi-Kabata, Yumi, Igeta, Saori, Yasuda, Jun, Tadaka, Shu, Minato, Takamichi, Watanabe, Zen, Kanno, Junko, Tamiya, Gen, Fuse, Nobuo, Kinoshita, Kengo, Kure, Shigeo, Kondo, Akiko, Tachibana, Masahito, Yamamoto, Masayuki, Yaegashi, Nobuo, Sugawara, Junichi
Publicado 2022

Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2)

por Tokunaga, Hideki, Iida, Keita, Hozawa, Atsushi, Ogishima, Soichi, Watanabe, Yoh, Shigeta, Shogo, Shimada, Muneaki, Yamaguchi-Kabata, Yumi, Tadaka, Shu, Katsuoka, Fumiki, Ito, Shin, Kumada, Kazuki, Hamanaka, Yohei, Fuse, Nobuo, Kinoshita, Kengo, Yamamoto, Masayuki, Yaegashi, Nobuo, Yasuda, Jun
Publicado 2021

Human genetic research, race, ethnicity and the labeling of populations: recommendations based on an interdisciplinary workshop in Japan

por Takezawa, Yasuko, Kato, Kazuto, Oota, Hiroki, Caulfield, Timothy, Fujimoto, Akihiro, Honda, Shunwa, Kamatani, Naoyuki, Kawamura, Shoji, Kawashima, Kohei, Kimura, Ryosuke, Matsumae, Hiromi, Saito, Ayako, Savage, Patrick E, Seguchi, Noriko, Shimizu, Keiko, Terao, Satoshi, Yamaguchi-Kabata, Yumi, Yasukouchi, Akira, Yoneda, Minoru, Tokunaga, Katsushi
Publicado 2014

Loss of CAPS2/Cadps2 leads to exocrine pancreatic cell injury and intracellular accumulation of secretory granules in mice

por Sato, Yotaroh, Tsuyusaki, Miho, Takahashi-Iwanaga, Hiromi, Fujisawa, Rena, Masamune, Atsushi, Hamada, Shin, Matsumoto, Ryotaro, Tanaka, Yu, Kakuta, Yoichi, Yamaguchi-Kabata, Yumi, Furuse, Tamio, Wakana, Shigeharu, Shimura, Takuya, Kobayashi, Rika, Shinoda, Yo, Goitsuka, Ryo, Maezawa, So, Sadakata, Tetsushi, Sano, Yoshitake, Furuichi, Teiichi
Publicado 2022

Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project

por Yasuda, Jun, Katsuoka, Fumiki, Danjoh, Inaho, Kawai, Yosuke, Kojima, Kaname, Nagasaki, Masao, Saito, Sakae, Yamaguchi-Kabata, Yumi, Tadaka, Shu, Motoike, Ikuko N., Kumada, Kazuki, Sakurai-Yageta, Mika, Tanabe, Osamu, Fuse, Nobuo, Tamiya, Gen, Higasa, Koichiro, Matsuda, Fumihiko, Yasuda, Nobufumi, Iwasaki, Motoki, Sasaki, Makoto, Shimizu, Atsushi, Kinoshita, Kengo, Yamamoto, Masayuki
Publicado 2018

3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome

por 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
Publicado 2019

Validation of multiple single nucleotide variation calls by additional exome analysis with a semiconductor sequencer to supplement data of whole-genome sequencing of a human popula...

por Motoike, Ikuko N, Matsumoto, Mitsuyo, Danjoh, Inaho, Katsuoka, Fumiki, Kojima, Kaname, Nariai, Naoki, Sato, Yukuto, Yamaguchi-Kabata, Yumi, Ito, Shin, Kudo, Hisaaki, Nishijima, Ichiko, Nishikawa, Satoshi, Pan, Xiaoqing, Saito, Rumiko, Saito, Sakae, Saito, Tomo, Shirota, Matsuyuki, Tsuda, Kaoru, Yokozawa, Junji, Igarashi, Kazuhiko, Minegishi, Naoko, Tanabe, Osamu, Fuse, Nobuo, Nagasaki, Masao, Kinoshita, Kengo, Yasuda, Jun, Yamamoto, Masayuki
Publicado 2014

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

por Nagasaki, Masao, Yasuda, Jun, Katsuoka, Fumiki, Nariai, Naoki, Kojima, Kaname, Kawai, Yosuke, Yamaguchi-Kabata, Yumi, Yokozawa, Junji, Danjoh, Inaho, Saito, Sakae, Sato, Yukuto, Mimori, Takahiro, Tsuda, Kaoru, Saito, Rumiko, Pan, Xiaoqing, Nishikawa, Satoshi, Ito, Shin, Kuroki, Yoko, Tanabe, Osamu, Fuse, Nobuo, Kuriyama, Shinichi, Kiyomoto, Hideyasu, Hozawa, Atsushi, Minegishi, Naoko, Douglas Engel, James, Kinoshita, Kengo, Kure, Shigeo, Yaegashi, Nobuo, Yamamoto, Masayuki
Publicado 2015