From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases
E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …
associated with complex traits. These associations could reveal the molecular mechanisms …
Molecular and evolutionary processes generating variation in gene expression
Heritable variation in gene expression is common within and between species. This
variation arises from mutations that alter the form or function of molecular gene regulatory …
variation arises from mutations that alter the form or function of molecular gene regulatory …
Stroke genetics informs drug discovery and risk prediction across ancestries
Previous genome-wide association studies (GWASs) of stroke—the second leading cause of
death worldwide—were conducted predominantly in populations of European ancestry …
death worldwide—were conducted predominantly in populations of European ancestry …
The GTEx Consortium atlas of genetic regulatory effects across human tissues
GTEx Consortium - Science, 2020 - science.org
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
Impact of genetic polymorphisms on human immune cell gene expression
BJ Schmiedel, D Singh, A Madrigal… - Cell, 2018 - cell.com
While many genetic variants have been associated with risk for human diseases, how these
variants affect gene expression in various cell types remains largely unknown. To address …
variants affect gene expression in various cell types remains largely unknown. To address …
Genetic effects on gene expression across human tissues
GTEx Consortium Lead analysts: Aguet François 1 … - Nature, 2017 - nature.com
Abstract Characterization of the molecular function of the human genome and its variation
across individuals is essential for identifying the cellular mechanisms that underlie human …
across individuals is essential for identifying the cellular mechanisms that underlie human …
Genetics of blood lipids among~ 300,000 multi-ethnic participants of the Million Veteran Program
D Klarin, SM Damrauer, K Cho, YV Sun, TM Teslovich… - Nature …, 2018 - nature.com
Abstract The Million Veteran Program (MVP) was established in 2011 as a national research
initiative to determine how genetic variation influences the health of US military veterans …
initiative to determine how genetic variation influences the health of US military veterans …
Fine-mapping inflammatory bowel disease loci to single-variant resolution
Inflammatory bowel diseases are chronic gastrointestinal inflammatory disorders that affect
millions of people worldwide. Genome-wide association studies have identified 200 …
millions of people worldwide. Genome-wide association studies have identified 200 …
Integrative approaches for large-scale transcriptome-wide association studies
Many genetic variants influence complex traits by modulating gene expression, thus altering
the abundance of one or multiple proteins. Here we introduce a powerful strategy that …
the abundance of one or multiple proteins. Here we introduce a powerful strategy that …
The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans
Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …
human disease and quantitative traits, remains a critical challenge for biomedicine. We …