Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Raúl Nicolás Mateos"'
Autor:
Wataru Nakamura, Makoto Hirata, Satoyo Oda, Kenichi Chiba, Ai Okada, Raúl Nicolás Mateos, Masahiro Sugawa, Naoko Iida, Mineko Ushiama, Noriko Tanabe, Hiromi Sakamoto, Shigeki Sekine, Akira Hirasawa, Yosuke Kawai, Katsushi Tokunaga, NCBN Controls WGS Consortium, Shin-ichi Tsujimoto, Norio Shiba, Shuichi Ito, Teruhiko Yoshida, Yuichi Shiraishi
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-13 (2024)
Abstract Innovations in sequencing technology have led to the discovery of novel mutations that cause inherited diseases. However, many patients with suspected genetic diseases remain undiagnosed. Long-read sequencing technologies are expected to sig
Externí odkaz:
https://doaj.org/article/7f7b990a881248838189c1889a7e569e
Autor:
Yuichi Shiraishi, Ai Okada, Kenichi Chiba, Asuka Kawachi, Ikuko Omori, Raúl Nicolás Mateos, Naoko Iida, Hirofumi Yamauchi, Kenjiro Kosaki, Akihide Yoshimi
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)
This paper proposed a novel in-silico framework for automatically screening disease-related variants and applied it to over 200,000 transcriptomes, providing an example to acquire medically relevant knowledge from publicly available sequence data.
Externí odkaz:
https://doaj.org/article/02ab6b33e13246a8bb0ad1e5da9d463b
Autor:
Munmee Dutta, Hidewaki Nakagawa, Hiroaki Kato, Kazuhiro Maejima, Shota Sasagawa, Kaoru Nakano, Aya Sasaki-Oku, Akihiro Fujimoto, Raúl Nicolás Mateos, Ashwini Patil, Hiroko Tanaka, Satoru Miyano, Takushi Yasuda, Kenta Nakai, Masashi Fujita
Publikováno v:
PeerJ, Vol 8, p e9294 (2020)
Esophageal squamous cell carcinoma (ESCC) is the predominant type of esophageal cancer in the Asian region, including Japan. A previous study reported mutational landscape of Japanese ESCCs by using exome sequencing. However, somatic structural alter
Externí odkaz:
https://doaj.org/article/6e74324b80534ac3ac25b707b22a6236
Autor:
Ai Okada, Kenjiro Kosaki, Akihide Yoshimi, Hirofumi Yamauchi, Raúl Nicolás Mateos, Naoko Iida, Ikuko Omori, Yuichi Shiraishi, Kenichi Chiba
Many disease-associated genomic variants disrupt gene function through abnormal splicing. With the advancement of genomic medicine, identifying disease-associated splicing associated variants has become more important than ever. Most bioinformatics a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::676d3dcd50c1e24131a58a583a12e401
https://doi.org/10.1101/2021.10.05.463278
https://doi.org/10.1101/2021.10.05.463278
Autor:
Aya Oku-Sasaki, Hiroko Tanaka, Seiko Hirono, Masashi Fujita, Satoru Miyano, Hiroki Yamaue, Hidewaki Nakagawa, Munmee Dutta, Raúl Nicolás Mateos, Kenta Nakai, Kaoru Nakano, Kazuhiro Maejima, Mitsuharu Fukasawa, Nobuyuki Enomoto, Akio Yanagisawa, Shinichi Takano, Satoru Yasukawa
Publikováno v:
Cancer Medicine, Vol 8, Iss 10, Pp 4565-4573 (2019)
Cancer Medicine
Cancer Medicine
Intraductal papillary mucinous neoplasm (IPMN) of pancreas has a high risk to develop into invasive cancer or co‐occur with malignant lesion. Therefore, it is important to assess its malignant risk by less‐invasive approach. Pancreatic juice cell
Autor:
Kenta Nakai, Kaoru Nakano, Satoru Miyano, Takushi Yasuda, Hiroaki Kato, Aya Sasaki-Oku, Ashwini Patil, Kazuhiro Maejima, Hiroko Tanaka, Munmee Dutta, Akihiro Fujimoto, Hidewaki Nakagawa, Raúl Nicolás Mateos, Masashi Fujita, Shota Sasagawa
Publikováno v:
PeerJ, Vol 8, p e9294 (2020)
PeerJ
PeerJ
Esophageal squamous cell carcinoma (ESCC) is the predominant type of esophageal cancer in the Asian region, including Japan. A previous study reported mutational landscape of Japanese ESCCs by using exome sequencing. However, somatic structural alter
Autor:
Naohiro Tomita, Masashi Fujita, Ayako Oosawa, Satoru Miyano, Hidewaki Nakagawa, Hiroki Ikeuchi, Raúl Nicolás Mateos, Seiichi Hirota, Mayuko Furuta, Hiroko Tanaka, Aya Oku-Sasaki, Ikuo Matsuda, Kazuhiro Maejima, Akihiro Fujimoto, Kenta Nakai, Yuichi Shiraishi, Tomoki Yamano, Kaoru Nakano, Nagahide Matsubara
Publikováno v:
Oncotarget
Inflammatory bowel disease (IBD) increases the risk of colorectal cancer, known as colitis-associated cancer (CAC). It is still unclear what driver mutations are caused by chronic inflammation and lead to CAC development. To get insight into this iss