GWAS data are openly available from the Psychiatric Genomics Consortium (PGC) at https://pgc.unc.edu/ and NHGRI-EBI GWAS Catalog data at https://www.ebi.ac.uk/gwas/. All data generated or analyzed during this study are included in this published article and its supplementary information ...
EFO provides a systematic description of many experimental variables across the European Bioinformatics Institute (EMBL-EBI) databases and the National Human Genome Research Institute (NHGRI) genome-wide association study (GWAS) catalog [31]; it also combines parts of several popular ontologies, such ...
The six chronological and holistic aging GWAS statistics were then combined on an SNP-by-SNP basis using the principal component loadings to construct genome-wide summary statistics for the six aging-GIPs. GIP effect estimates were calculated by summing effect estimates from the individual aging-relat...
FIG. 6A. Independent outlier gene count (IOGC) is defined as total outlier variants with a GWAS protective effect subtracted from total outlier variants with a GWAS risk effect, where outlier variants are collapsed to gene-level for individuals with >1 outlier variant per gene; FIG. 6B. Number...
We generated summary statistics by performing genome-wide association studies (GWAS) of 2,138 phenotypes from the UK Biobank (Fig. 1a, Supplementary Table 1, Supplementary Data 1). We performed variant-level quality control, which includes linkage-disequilibrium (LD) pruning and removal of variants...
To examine the discovery potential of PWAS compared to GWAS and SKAT, we conducted a simulation analysis (Fig. 3). The simulation was carried on real genetic data (from the UKBB cohort), with phenotypes simulated by mixing genetic signal and noise. To test the sensitivity of PWAS to the in...
Porcine QTLs with overlapping QTLs for related phenotypes in the NHGRI GWAS catalog.doi:10.1371/JOURNAL.PONE.0137356.T002D. SameerKarlskov-Mortensen PeterJ. MetteCirera SusannaJ. LisetteS. CamillaMark G ThomasB. ClausG. NielsV. EmilPLOS ONE...
(2) the NHGRI-EBI Catalog of Published Genome-Wide Association Studies [52]. SNPs were identified ± 100 kb from the transcription start site of each miRNA of interest, which is considered a feasible range forcis-regulatory interactions [53]. All SNPs identified at the miRNA loci were ...
overlaps with BP genetic associations reported in the GWAS Catalog are presented.BExploratory findings from the association analyses of immune-related polygenic scores and BP phenotypes in ConLi+Gen “GWAS1”. The heatmap shows the estimates (scaled by column) obtained for each PGS-phenotype pair....
their data. we have standardized this for cttv, differentiating phenotype from disease, and defaulting to hp imported terms in efo for the description of phenotypes where possible. for example, the gwas catalog trait myopia is annotated to the hp's iri http://purl.obolibrary.org/obo/hp_...