Results 51 to 60 of about 244,292 (300)

Shared Genetic Effects and Antagonistic Pleiotropy Between Multiple Sclerosis and Common Cancers

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epidemiologic studies have reported inconsistent altered cancer risk in individuals with multiple sclerosis (MS). Factors such as immune dysregulation, comorbidities, and disease‐modifying therapies may contribute to this variability.
Asli Buyukkurt   +5 more
wiley   +1 more source

Validation of a Genetic Risk Score Combined with Clinical Variables for Predicting Pulmonary Fibrosis in early Rheumatoid Arthritis

open access: yesArthritis Care &Research, Accepted Article.
Objectives Pulmonary fibrosis (PF) is a severe extra‐articular manifestation of rheumatoid arthritis (RA). The study aimed to externally validate a genetic risk score (GRS) and a combined risk score for predicting the risk of RA‐associated PF in an independent cohort of early‐RA patients. Methods This study utilized an inception cohort of 1118 patients
Mikael Brink   +3 more
wiley   +1 more source

Novel Approaches for Identifying the Molecular Background of Schizophrenia

open access: yesCells, 2020
Recent advances in psychiatric genetics have led to the discovery of dozens of genomic loci associated with schizophrenia. However, a gap exists between the detection of genetic associations and understanding the underlying molecular mechanisms.
Arkadiy K. Golov   +3 more
doaj   +1 more source

The Population Genetic Signature of Polygenic Local Adaptation

open access: yes, 2014
Adaptation in response to selection on polygenic phenotypes may occur via subtle allele frequencies shifts at many loci. Current population genomic techniques are not well posed to identify such signals.
Berg, Jeremy J., Coop, Graham
core   +3 more sources

GenEpi: gene-based epistasis discovery using machine learning. [PDF]

open access: yes, 2020
BackgroundGenome-wide association studies (GWAS) provide a powerful means to identify associations between genetic variants and phenotypes. However, GWAS techniques for detecting epistasis, the interactions between genetic variants associated with ...
Alzheimer’s Disease Neuroimaging Initiative   +9 more
core  

Genome‐Wide by Lifetime Environment Interaction Studies of Brain Imaging Phenotypes

open access: yesAdvanced Science, EarlyView.
This study explores genome‐wide by lifetime environment interactions on brain imaging phenotypes. Gene‐environment interactions explain more phenotypic variance than main effects, pinpoint regulatory variants, and reveal exposure‐specific biological pathways.
Sijia Wang   +51 more
wiley   +1 more source

Improved Imputation of Common and Uncommon Single Nucleotide Polymorphisms (SNPs) with a New Reference Set [PDF]

open access: yes, 2011
Statistical imputation of genotype data is an important technique for analysis of genome-wide association studies (GWAS). We have built a reference dataset to improve imputation accuracy for studies of individuals of primarily European descent using ...
Amy Hutchinson   +23 more
core   +2 more sources

Construction of a Multitissue Cell Atlas Reveals Cell‐Type‐Specific Regulation of Molecular and Complex Phenotypes in Pigs

open access: yesAdvanced Science, EarlyView.
This research conducts an in‐depth investigation of cell‐type‐specific regulatory mechanisms underlying molecular and complex phenotypes through integrative analysis of multitissue single‐nucleus RNA sequencing, bulk RNA‐seq, and genome‐wide association study (GWAS) data in pigs.
Lijuan Chen   +31 more
wiley   +1 more source

Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits. [PDF]

open access: yes, 2019
The cardiac transcription factor (TF) gene NKX2-5 has been associated with electrocardiographic (EKG) traits through genome-wide association studies (GWASs), but the extent to which differential binding of NKX2-5 at common regulatory variants contributes
Benaglio, Paola   +17 more
core  

Multiple breast cancer risk variants are associated with differential transcript isoform expression in tumors. [PDF]

open access: yes, 2015
Genome-wide association studies have identified over 70 single-nucleotide polymorphisms (SNPs) associated with breast cancer. A subset of these SNPs are associated with quantitative expression of nearby genes, but the functional effects of the majority ...
Brenner, Steven E   +8 more
core   +2 more sources

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