[HTML][HTML] 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 …
Dissecting the genetics of complex traits using summary association statistics
B Pasaniuc, AL Price - Nature reviews genetics, 2017 - nature.com
During the past decade, genome-wide association studies (GWAS) have been used to
successfully identify tens of thousands of genetic variants associated with complex traits and …
successfully identify tens of thousands of genetic variants associated with complex traits and …
[HTML][HTML] A saturated map of common genetic variants associated with human height
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
50% of phenotypic variation in human height, but identifying the specific variants and …
50% of phenotypic variation in human height, but identifying the specific variants and …
[HTML][HTML] Genetic mechanisms of critical illness in COVID-19
Host-mediated lung inflammation is present, and drives mortality, in the critical illness
caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with …
caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with …
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 …
Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases
Horizontal pleiotropy occurs when the variant has an effect on disease outside of its effect on
the exposure in Mendelian randomization (MR). Violation of the 'no horizontal …
the exposure in Mendelian randomization (MR). Violation of the 'no horizontal …
[HTML][HTML] Fine-mapping from summary data with the “Sum of Single Effects” model
In recent work, Wang et al introduced the “Sum of Single Effects”(SuSiE) model, and showed
that it provides a simple and efficient approach to fine-mapping genetic variants from …
that it provides a simple and efficient approach to fine-mapping genetic variants from …
[HTML][HTML] Improved polygenic prediction by Bayesian multiple regression on summary statistics
Accurate prediction of an individual's phenotype from their DNA sequence is one of the great
promises of genomics and precision medicine. We extend a powerful individual-level data …
promises of genomics and precision medicine. We extend a powerful individual-level data …
[HTML][HTML] Genome-wide association study identifies 143 loci associated with 25 hydroxyvitamin D concentration
Vitamin D deficiency is a candidate risk factor for a range of adverse health outcomes. In a
genome-wide association study of 25 hydroxyvitamin D (25OHD) concentration in 417,580 …
genome-wide association study of 25 hydroxyvitamin D (25OHD) concentration in 417,580 …
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 …