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 …
Evaluating the potential role of pleiotropy in Mendelian randomization studies
Pleiotropy, the phenomenon of a single genetic variant influencing multiple traits, is likely
widespread in the human genome. If pleiotropy arises because the single nucleotide …
widespread in the human genome. If pleiotropy arises because the single nucleotide …
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy
We report on the influence of~ 22 million variants on 731 immune cell traits in a cohort of
3,757 Sardinians. We detected 122 significant (P< 1.28× 10− 11) independent association …
3,757 Sardinians. We detected 122 significant (P< 1.28× 10− 11) independent association …
Eliciting priors and relaxing the single causal variant assumption in colocalisation analyses
C Wallace - PLoS genetics, 2020 - journals.plos.org
Horizontal integration of summary statistics from different GWAS traits can be used to
evaluate evidence for their shared genetic causality. One popular method to do this is a …
evaluate evidence for their shared genetic causality. One popular method to do this is a …
Detection and interpretation of shared genetic influences on 42 human traits
We performed a scan for genetic variants associated with multiple phenotypes by comparing
large genome-wide association studies (GWAS) of 42 traits or diseases. We identified 341 …
large genome-wide association studies (GWAS) of 42 traits or diseases. We identified 341 …
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 …
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes
CC Robertson, JRJ Inshaw, S Onengut-Gumuscu… - Nature …, 2021 - nature.com
We report the largest and most diverse genetic study of type 1 diabetes (T1D) to date
(61,427 participants), yielding 78 genome-wide-significant (P< 5× 10− 8) regions, including …
(61,427 participants), yielding 78 genome-wide-significant (P< 5× 10− 8) regions, including …
Flexible statistical methods for estimating and testing effects in genomic studies with multiple conditions
We introduce new statistical methods for analyzing genomic data sets that measure many
effects in many conditions (for example, gene expression changes under many treatments) …
effects in many conditions (for example, gene expression changes under many treatments) …
Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease
Primary sclerosing cholangitis (PSC) is a rare progressive disorder leading to bile duct
destruction;∼ 75% of patients have comorbid inflammatory bowel disease (IBD). We …
destruction;∼ 75% of patients have comorbid inflammatory bowel disease (IBD). We …
Genome-wide association analysis in humans links nucleotide metabolism to leukocyte telomere length
C Li, S Stoma, LA Lotta, S Warner, E Albrecht… - The American Journal of …, 2020 - cell.com
Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we
perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed …
perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed …