Genomic catastrophes frequently arise in esophageal adenocarcinoma and drive tumorigenesis [PDF]
Oesophageal adenocarcinoma (EAC) incidence is rapidly increasing in Western countries. A better understanding of EAC underpins efforts to improve early detection and treatment outcomes.
Anderson, M +43 more
core +4 more sources
Odyssey: a semi-automated pipeline for phasing, imputation, and analysis of genome-wide genetic data [PDF]
BACKGROUND: Genome imputation, admixture resolution and genome-wide association analyses are timely and computationally intensive processes with many composite and requisite steps.
Eller, Ryan J. +2 more
core +1 more source
Phenome-wide association studies as a research tool for identifying new pathogenetic links
The accumulation of biospecimens associated with large-scale clinical data (data from electronic medical records, epidemiological and other large-scale studies) has made it possible to conduct studies aimed at studying associations between genetic ...
N. A. Mashkina +3 more
doaj +1 more source
MR-PheWAS:Hypothesis prioritization among potential causal effects of body mass index on many outcomes, using Mendelian randomization [PDF]
Observational cohort studies can provide rich datasets with a diverse range of phenotypic variables. However, hypothesis-driven epidemiological analyses by definition only test particular hypotheses chosen by researchers.
Davey Smith, George +5 more
core +2 more sources
A data-driven approach for studying the role of body mass in multiple diseases: a phenome-wide registry-based case-control study in the UK Biobank [PDF]
Background Mendelian randomisation allows for the testing of causal effects in situations where clinical trials are challenging to do. In this hypothesis-free, data-driven phenome-wide association study (PheWAS), we sought to assess possible ...
Biener +31 more
core +1 more source
The extracellular matrix phenome across species
Extracellular matrices are essential for cellular and organismal function. Recent genome-wide and phenome-wide association studies started to reveal a broad spectrum of phenotypes associated with genetic variants.
Cyril Statzer, Collin Y. Ewald
doaj +1 more source
BackgroundProstate cancer is the second most common cancer in males worldwide, and multitudes of factors have been reported to be associated with prostate cancer risk.ObjectivesWe aim to conduct the phenome-wide exposed-omics analysis of the risk factors
Dongqing Gu +9 more
doaj +1 more source
Background Obstructive sleep apnea (OSA) is defined by frequent episodes of reduced or complete cessation of airflow during sleep and is linked to negative health outcomes.
Olivia J. Veatch +9 more
doaj +1 more source
HLA Class I or Class II and Disease Association: Catch the Difference if You Can [PDF]
The association of autoimmune diseases with HLA has been known for many decades. To date, however, the underlying mechanisms have not been fully understood. The recently introduced genome-wide association studies (GWAS) have suggested that several genes
Fiorillo, Mt +3 more
core +2 more sources
Human and Machine Intelligence Together Drive Drug Repurposing in Rare Diseases
Repurposing is an increasingly attractive method within the field of drug development for its efficiency at identifying new therapeutic opportunities among approved drugs at greatly reduced cost and time of more traditional methods.
Anup P. Challa +16 more
doaj +1 more source

