Genome-Wide Association Study for Chronic Hepatitis B Infection in the Thai Population
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
Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. [PDF]
We sequenced 11 germline exomes from five families with familial pancreatic cancer (FPC). One proband had a germline nonsense variant in ATM with somatic loss of the variant allele. Another proband had a nonsense variant in PALB2 with somatic loss of the
Al-Sukhni, Wigdan +12 more
core +3 more sources
High-Throughput MICA/B Genotyping of Over Two Million Samples: Workflow and Allele Frequencies
MICA and MICB are ligands of the NKG2D receptor and thereby influence NK and T cell activity. MICA/B gene polymorphisms, expression levels and the amount of soluble MICA/B in the serum have been linked to autoimmune diseases, infections, and cancer.
Anja Klussmeier +14 more
doaj +1 more source
Invasive Allele Spread under Preemptive Competition
We study a discrete spatial model for invasive allele spread in which two alleles compete preemptively, initially only the "residents" (weaker competitors) being present.
A. Gandhi +19 more
core +2 more sources
Artificial escape from XCI by DNA methylation editing of the CDKL5 gene. [PDF]
A significant number of X-linked genes escape from X chromosome inactivation and are associated with a distinct epigenetic signature. One epigenetic modification that strongly correlates with X-escape is reduced DNA methylation in promoter regions. Here,
Anderson, Johnathon D +14 more
core +1 more source
Fat Mass and Obesity-Associated Gene (FTO) in Eating Disorders: Evidence for Association of the rs9939609 Obesity Risk Allele with Bulimia nervosa and Anorexia nervosa [PDF]
Objective: The common single nucleotide polymorphism (SNP) rs9939609 in the fat mass and obesity-associated gene (FTO) is associated with obesity. As genetic variants associated with weight regulation might also be implicated in the etiology of eating ...
André Scherag +66 more
core +4 more sources
Association between the c.*229C>T polymorphism of the topoisomerase IIb binding protein 1 (TopBP1) gene and breast cancer [PDF]
Topoisomerase IIb binding protein 1 (TopBP1) is involved in cell survival, DNA replication, DNA damage repair and cell cycle checkpoint control. The biological function of TopBP1 and its close relation with BRCA1 prompted us to investigate whether ...
A Jemal +38 more
core +1 more source
From omics to AI—mapping the pathogenic pathways in type 2 diabetes
Integrating multi‐omics data with AI‐based modelling (unsupervised and supervised machine learning) identify optimal patient clusters, informing AI‐driven accurate risk stratification. Digital twins simulate individual trajectories in real time, guiding precision medicine by matching patients to targeted therapies.
Siobhán O'Sullivan +2 more
wiley +1 more source
Inheritance of a sign of apricot color of ray flowers of sunflower (Helianthus annuus L.)
Purpose. To reveal the nature of the inheritance of apricot color of the ray flowers of the sunflower and the type of interaction of genes causing different colors. Methods. Field experiment, genetic analysis. The statistical validity of the results was
К. В. Ведмедєва
doaj +1 more source
The ages of alleles and a coalescent
A new coalescent is introduced to study the genealogy of a sample from the infinite-alleles model of population genetics. This coalescent also records the age ordering of alleles in the sample. The distribution of this process is found explicitly for the Moran model, and is shown to be robust for a wide class of reproductive schemes.Properties of the ...
Donnelly, P, Tavare, S
openaire +4 more sources

