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 …
Strategies for fine-mapping complex traits
SL Spain, JC Barrett - Human molecular genetics, 2015 - academic.oup.com
Genome-wide association studies (GWAS) have identified thousands of robust and
replicable genetic associations for complex disease. However, the identification of the …
replicable genetic associations for complex disease. However, the identification of the …
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases
Clinical measurements can be viewed as useful intermediate phenotypes to promote
understanding of complex human diseases. To acquire comprehensive insights into the …
understanding of complex human diseases. To acquire comprehensive insights into the …
Lineage-specific genome architecture links enhancers and non-coding disease variants to target gene promoters
BM Javierre, OS Burren, SP Wilder, R Kreuzhuber… - Cell, 2016 - cell.com
Long-range interactions between regulatory elements and gene promoters play key roles in
transcriptional regulation. The vast majority of interactions are uncharted, constituting a …
transcriptional regulation. The vast majority of interactions are uncharted, constituting a …
Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria
Polycystic ovary syndrome (PCOS) is a disorder characterized by hyperandrogenism,
ovulatory dysfunction and polycystic ovarian morphology. Affected women frequently have …
ovulatory dysfunction and polycystic ovarian morphology. Affected women frequently have …
Partitioning heritability by functional annotation using genome-wide association summary statistics
Recent work has demonstrated that some functional categories of the genome contribute
disproportionately to the heritability of complex diseases. Here we analyze a broad set of …
disproportionately to the heritability of complex diseases. Here we analyze a broad set of …
Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci
We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's
disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate …
disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate …
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 …
Transcription factors operate across disease loci, with EBNA2 implicated in autoimmunity
Explaining the genetics of many diseases is challenging because most associations localize
to incompletely characterized regulatory regions. Using new computational methods, we …
to incompletely characterized regulatory regions. Using new computational methods, we …
Genetic predisposition to mosaic Y chromosome loss in blood
Mosaic loss of chromosome Y (LOY) in circulating white blood cells is the most common
form of clonal mosaicism,,,–, yet our knowledge of the causes and consequences of this is …
form of clonal mosaicism,,,–, yet our knowledge of the causes and consequences of this is …