[HTML][HTML] 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 …
A global overview of pleiotropy and genetic architecture in complex traits
K Watanabe, S Stringer, O Frei, M Umićević Mirkov… - Nature …, 2019 - nature.com
After a decade of genome-wide association studies (GWASs), fundamental questions in
human genetics, such as the extent of pleiotropy across the genome and variation in genetic …
human genetics, such as the extent of pleiotropy across the genome and variation in genetic …
[HTML][HTML] The post-GWAS era: from association to function
MD Gallagher, AS Chen-Plotkin - The American Journal of Human …, 2018 - cell.com
During the past 12 years, genome-wide association studies (GWASs) have uncovered
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …
thousands of genetic variants that influence risk for complex human traits and diseases. Yet …
Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies
Improved understanding of genetic regulation of the proteome can facilitate identification of
the causal mechanisms for complex traits. We analyzed data on 4,657 plasma proteins from …
the causal mechanisms for complex traits. We analyzed data on 4,657 plasma proteins from …
[HTML][HTML] Functional mapping and annotation of genetic associations with FUMA
K Watanabe, E Taskesen, A Van Bochoven… - Nature …, 2017 - nature.com
A main challenge in genome-wide association studies (GWAS) is to pinpoint possible causal
variants. Results from GWAS typically do not directly translate into causal variants because …
variants. Results from GWAS typically do not directly translate into causal variants because …
[HTML][HTML] Ever-changing landscapes: transcriptional enhancers in development and evolution
HK Long, SL Prescott, J Wysocka - Cell, 2016 - cell.com
A class of cis-regulatory elements, called enhancers, play a central role in orchestrating
spatiotemporally precise gene-expression programs during development. Consequently …
spatiotemporally precise gene-expression programs during development. Consequently …
[HTML][HTML] Multitissue H3K27ac profiling of GTEx samples links epigenomic variation to disease
Genetic variants associated with complex traits are primarily noncoding, and their effects on
gene-regulatory activity remain largely uncharacterized. To address this, we profile …
gene-regulatory activity remain largely uncharacterized. To address this, we profile …
Genetic drivers of m6A methylation in human brain, lung, heart and muscle
The most prevalent post-transcriptional mRNA modification, N 6-methyladenosine (m6A),
plays diverse RNA-regulatory roles, but its genetic control in human tissues remains …
plays diverse RNA-regulatory roles, but its genetic control in human tissues remains …
Regulation of disease-associated gene expression in the 3D genome
PHL Krijger, W De Laat - Nature reviews Molecular cell biology, 2016 - nature.com
Genetic variation associated with disease often appears in non-coding parts of the genome.
Understanding the mechanisms by which this phenomenon leads to disease is necessary to …
Understanding the mechanisms by which this phenomenon leads to disease is necessary to …