Genome-wide association studies
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …
across many genomes to find those statistically associated with a specific trait or disease …
Genetic impacts on DNA methylation: research findings and future perspectives
S Villicaña, JT Bell - Genome biology, 2021 - Springer
Multiple recent studies highlight that genetic variants can have strong impacts on a
significant proportion of the human DNA methylome. Methylation quantitative trait loci, or …
significant proportion of the human DNA methylome. Methylation quantitative trait loci, or …
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions
Endometriosis is a common condition associated with debilitating pelvic pain and infertility.
A genome-wide association study meta-analysis, including 60,674 cases and 701,926 …
A genome-wide association study meta-analysis, including 60,674 cases and 701,926 …
Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders
To date, most expression quantitative trait loci (eQTL) studies, which investigate how genetic
variants contribute to gene expression, have been performed in heterogeneous brain …
variants contribute to gene expression, have been performed in heterogeneous brain …
A compendium of uniformly processed human gene expression and splicing quantitative trait loci
N Kerimov, JD Hayhurst, K Peikova, JR Manning… - Nature …, 2021 - nature.com
Many gene expression quantitative trait locus (eQTL) studies have published their summary
statistics, which can be used to gain insight into complex human traits by downstream …
statistics, which can be used to gain insight into complex human traits by downstream …
Genetic control of RNA splicing and its distinct role in complex trait variation
Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …
are noncoding, indicating their role in gene regulation. Previous studies have shown …
[HTML][HTML] A blood atlas of COVID-19 defines hallmarks of disease severity and specificity
DJ Ahern, Z Ai, M Ainsworth, C Allan, A Allcock… - Cell, 2022 - cell.com
Treatment of severe COVID-19 is currently limited by clinical heterogeneity and incomplete
description of specific immune biomarkers. We present here a comprehensive multi-omic …
description of specific immune biomarkers. We present here a comprehensive multi-omic …
Comprehensive functional genomic resource and integrative model for the human brain
INTRODUCTION Strong genetic associations have been found for a number of psychiatric
disorders. However, understanding the underlying molecular mechanisms remains …
disorders. However, understanding the underlying molecular mechanisms remains …
Global impact of unproductive splicing on human gene expression
Alternative splicing (AS) in human genes is widely viewed as a mechanism for enhancing
proteomic diversity. AS can also impact gene expression levels without increasing protein …
proteomic diversity. AS can also impact gene expression levels without increasing protein …
Multi-ethnic genome-wide association study for atrial fibrillation
C Roselli, MD Chaffin, LC Weng, S Aeschbacher… - Nature …, 2018 - nature.com
Atrial fibrillation (AF) affects more than 33 million individuals worldwide and has a complex
heritability. We conducted the largest meta-analysis of genome-wide association studies …
heritability. We conducted the largest meta-analysis of genome-wide association studies …