These predictions synthesize genetic, perturbational, and regulatory evidence to categorize potential T1D effector genes by the strength of their supporting evidence.
Onengut-Gumuscu S and Rich SS. Unpublished, 2022.
Candidate effector gene predictions were generated by Bayesian colocalization of T2D GWAS signals and eQTLs in T2D-relevant tissues.
These coronary artery disease (CAD) effector gene predictions from the CARDIoGRAMplusC4D consortium considered 8 locus-based or similarity-based predictors at each of 239 genome-wide significant CAD loci.
Potential effector genes were prioritized, using multiple evidence sources, at loci genetically associated with stroke risk.
Genes were prioritized at blood pressure-associated loci by combining several types of evidence:
Variants located in obesity-associated GWAS loci were tested for cell type specific or cross-tissue enhancer modulating properties using a massively parallel reporter assay.
A Genome-Wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes.
Cho MH, et al.
J Respir Crit Care Med. 2015 Sep 1;192(5):559-69. doi: 10.1164/rccm.201501-0148OC.
PMID: 26030696
Summary statistics are available for download from the International IPF Genetics Consortium.
PCSK6 and Survival in Idiopathic Pulmonary Fibrosis.
Oldham JM, et al.
Submitted for publication, 2022.
bioRxiv preprint
Summary statistics are available for download from the International IPF Genetics Consortium.
Longitudinal lung function and gas transfer in individuals with idiopathic pulmonary fibrosis: a genome-wide association study.
Allen RJ, et al.
Lancet Respir Med. 2022 Aug 16:S2213-2600(22)00251-X. doi:10.1016/S2213-2600(22)00251-X.
PMID: 35985358
Summary statistics are available for download from the International IPF Genetics Consortium.
Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis.
Allen RJ, et al.
Thorax. 2022 Aug;77(8):829-833. doi: 10.1136/thoraxjnl-2021-218577.
PMID: 35688625