OR or BETA*: Reported odds ratio or beta-coefficient associated with strongest SNP risk allele. Note that if an OR <1 is reported this is inverted, along with the reported allele, so that all ORs included in the Catalog are >1. Appropriate unit and increase/decrease are include...
According to DisGeNet and the NHGRI-EBI GWAS Catalog, over 170 genes are reported to be associated with inflammatory bowel diseases. Despite the appreciable number of GWAS findings, only a few of these have shown immediate impact in clinical practice. This is not surprising. GWAS only offer one...
cut -f 2,5 gwascatalog.txt |perl -alne '{$hash{$_}++}END{print "$_" foreach sort {$hash{$a} <=> $hash{$b}} keys %hash}' |cut -f 2 |perl -alne '{$hash{$_}++}END{print "$_\t$hash{$_}" foreach sort {$hash{$a} <=> $hash{$b}} keys %hash}' Hum Genet 4...
To look for enrichments of phenotypes in GWAS Catalog, we used FUMA160 v1.3.7 with default settings and the list of genes obtained from GREAT for consistency across the enrichment analyses. Next, a set of candidate genes at each locus was compiled by combining the genes annotated by GREAT ...
OR or BETA*: Reported odds ratio or beta-coefficient associated with strongest SNP risk allele. Note that if an OR <1 is reported this is inverted, along with the reported allele, so that all ORs included in the Catalog are >1. Appropriate unit and increase/decrease are included for beta...
The results of tissue-specificity analysis (as per GTEx34 data (https://www.gtexportal.org)), gene sets/pathway analysis (as per MsigDB67 (https://www.gsea-msigdb.org/gsea/msigdb)) and overlap of the genes with GWAS Catalog45 reported associations (https://www.ebi.ac.uk/gwas/) were ...
, andHLA-DQA1(SimulatedP = 2.85 × 10− 5). Although numerous genes have been reported to be associated with asthma in the GWAS Catalog, a greater number of novel risk genes were identified in our current Bayesian analysis (Supplemental Table S1)....
The results demonstrate that sCLC detects the most number of significant SNPs, and most of these identified SNPs can be matched to genes that have been reported in the GWAS catalog to be associated with those phenotypes. Furthermore, sCLC also identifies some novel signals that were missed by ...
GWAS Integrator is a bioinformatics tool that integrates information on these associations from the National Human Genome Research institute (NHGRI) Catalog, SNAP (SNP Annotation and Proxy Search), and the Human Genome Epidemiology (HuGE) Navigator literature database. This tool includes robust search ...
Analysis of single-nucleus RNA-seq of glaucoma-relevant eye tissues reveals that the POAG and IOP colocalizing genes and genome-wide associations are enriched in specific cell types in the aqueous outflow pathways, retina, optic nerve head, peripapillary sclera, and choroid. This study nominates ...