Results 21 to 30 of about 988,007 (335)

The Human Genome Project [PDF]

Clinical Obstetrics and Gynecology, 1993
The Human Genome Project in the United States is now well underway. Its programmatic direction was largely set by a National Research Council report issued in 1988. The broad framework supplied by this report has survived almost unchanged despite an upheaval in the technology of genome analysis. This upheaval has primarily affected physical and genetic
B. J. F. Rossiter, Charles T. Caskey
openaire   +6 more sources

Genome-wide copy number variation analysis of hepatitis B infection in a Japanese population

Human Genome Variation, 2021
Hepatitis B: Gene copy numbers associated with risk of infection The risk of contracting the hepatitis B virus may be linked to the number of copies of certain genes in an individual’s genome.
Masataka Kikuchi, Kaori Kobayashi, Nao Nishida, Hiromi Sawai, Masaya Sugiyama, Masashi Mizokami, Katsushi Tokunaga, Akihiro Nakaya   +7 more
doaj   +1 more source

Narcolepsy type I-associated DNA methylation and gene expression changes in the human leukocyte antigen region

Scientific Reports, 2023
Narcolepsy type 1 (NT1) is caused by a loss of hypothalamic orexin-producing cells, and autoreactive CD4+ and CD8+ T cells have been suggested to play a role in the autoimmune mechanism.
Kugui Yoshida-Tanaka, Mihoko Shimada, Yoshiko Honda, Akihiro Fujimoto, Katsushi Tokunaga, Makoto Honda, Taku Miyagawa   +6 more
doaj   +1 more source

rs2013278 in the multiple immunological-trait susceptibility locus CD28 regulates the production of non-functional splicing isoforms

Human Genomics, 2022
Background Ligation of CD28 with ligands such as CD80 or CD86 provides a critical second signal alongside antigen presentation by class II major histocompatibility complex expressed on antigen-presenting cells through the T cell antigen receptor for ...
Yuki Hitomi, Yoshihiro Aiba, Kazuko Ueno, Nao Nishida, Yosuke Kawai, Minae Kawashima, Makoto Tsuiji, Chisato Iwabuchi, Sanami Takada, Noriko Miyake, Masao Nagasaki, Katsushi Tokunaga, Minoru Nakamura   +12 more
doaj   +1 more source

Genome-Wide Association Study for Chronic Hepatitis B Infection in the Thai Population

Frontiers in Genetics, 2022
To identify novel host genetic variants that predispose to hepatitis B virus (HBV) persistence, we performed the first genome-wide association study in the Thai population involving 318 cases of chronic hepatitis B and 309 healthy controls after quality ...
Saeideh Ashouri, Saeideh Ashouri, Seik-Soon Khor, Seik-Soon Khor, Yuki Hitomi, Hiromi Sawai, Nao Nishida, Masaya Sugiyama, Yosuke Kawai, Yosuke Kawai, Nawarat Posuwan, Nawarat Posuwan, Pisit Tangkijvanich, Piyawat Komolmit, Piyawat Komolmit, Makoto Tsuiji, Vorasuk Shotelersuk, Yong Poovorawan, Masashi Mizokami, Katsushi Tokunaga, Katsushi Tokunaga   +20 more
doaj   +1 more source

rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis

Scientific Reports, 2021
Primary biliary cholangitis (PBC) is a chronic, progressive cholestatic liver disease in which intrahepatic bile ducts are destroyed by an autoimmune reaction.
Yuki Hitomi, Yoshihiro Aiba, Yosuke Kawai, Kaname Kojima, Kazuko Ueno, Nao Nishida, Minae Kawashima, Olivier Gervais, Seik-Soon Khor, Masao Nagasaki, Katsushi Tokunaga, Minoru Nakamura, Makoto Tsuiji   +12 more
doaj   +1 more source

Importance of HBsAg recognition by HLA molecules as revealed by responsiveness to different hepatitis B vaccines

Scientific Reports, 2021
Hepatitis B (HB) vaccines (Heptavax-II and Bimmugen) designed based on HBV genotypes A and C are mainly used for vaccination against HB in Japan. To determine whether there are differences in the genetic background associated with vaccine responsiveness,
Nao Nishida, Masaya Sugiyama, Jun Ohashi, Yosuke Kawai, Seik-Soon Khor, Sohji Nishina, Kazumi Yamasaki, Hirohisa Yazaki, Kaori Okudera, Akihiro Tamori, Yuichiro Eguchi, Aiko Sakai, Keisuke Kakisaka, Hiromi Sawai, Takayo Tsuchiura, Miyuki Ishikawa, Keisuke Hino, Ryo Sumazaki, Yasuhiro Takikawa, Tatsuo Kanda, Osamu Yokosuka, Hiroshi Yatsuhashi, Katsushi Tokunaga, Masashi Mizokami   +23 more
doaj   +1 more source

From the double helix to the personal genomes

Apollo Medicine, 2023
In 1954, the seminal short paper in the Nature from James Watson and Francis Crick proposed the double helix model of deoxyribose nucleic acid. This amateur-looking concept changed the way molecular biology is now perceived. We are now celebrating the 70
Dhavendra Kumar
doaj   +1 more source

Whole-genome sequencing with long reads reveals complex structure and origin of structural variation in human genetic variations and somatic mutations in cancer

Genome Medicine, 2021
Background Identification of germline variation and somatic mutations is a major issue in human genetics. However, due to the limitations of DNA sequencing technologies and computational algorithms, our understanding of genetic variation and somatic ...
Akihiro Fujimoto, Jing Hao Wong, Yukiko Yoshii, Shintaro Akiyama, Azusa Tanaka, Hitomi Yagi, Daichi Shigemizu, Hidewaki Nakagawa, Masashi Mizokami, Mihoko Shimada   +9 more
doaj   +1 more source

Cultivating DNA Sequencing Technology After the Human Genome Project.

Annual review of genomics and human genetics (Print), 2020
When the Human Genome Project was completed in 2003, automated Sanger DNA sequencing with fluorescent dye labels was the dominant technology. Several nascent alternative methods based on older ideas that had not been fully developed were the focus of ...
J. Schloss, R. Gibbs, V. Makhijani, A. Marziali   +3 more
semanticscholar   +1 more source