Results 11 to 20 of about 908,738 (290)

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

open access: yesHuman 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   +7 more
doaj   +1 more source

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

open access: yesScientific 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   +6 more
doaj   +1 more source

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

open access: yesHuman 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   +12 more
doaj   +1 more source

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

open access: yesFrontiers 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   +20 more
doaj   +1 more source

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

open access: yesScientific 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   +12 more
doaj   +1 more source

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

open access: yesScientific 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   +23 more
doaj   +1 more source

From the double helix to the personal genomes

open access: yesApollo 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

open access: yesGenome 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   +9 more
doaj   +1 more source

Robustness of Massively Parallel Sequencing Platforms. [PDF]

open access: yesPLoS ONE, 2015
The improvements in high throughput sequencing technologies (HTS) made clinical sequencing projects such as ClinSeq and Genomics England feasible. Although there are significant improvements in accuracy and reproducibility of HTS based analyses, the ...
Pınar Kavak   +9 more
doaj   +1 more source

From metagenomics to the metagenome: Conceptual change and the rhetoric of translational genomic research [PDF]

open access: yes, 2009
As the international genomic research community moves from the tool-making efforts of the Human Genome Project into biomedical applications of those tools, new metaphors are being suggested as useful to understanding how our genes work – and for ...
Huss, John Edward, Juengst, Eric Thomas
core   +1 more source

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