ipaQTL-atlas

ipaQTL-atlas maps intronic polyadenylation (IPA) quantitative trait loci (ipaQTLs) across human tissues to link intronic APA events to genetic variation underlying human traits and diseases.

Key Features:

• Comprehensive dataset: Built from 15,170 RNA-seq samples from 838 individuals across 49 Genotype-Tissue Expression (GTEx v8) tissues.
• SNP–IPA associations: Identifies approximately 0.98 million single nucleotide polymorphisms (SNPs) associated with intronic alternative polyadenylation (intronic APA) events.
• Functional linkage to QTLs: Links intronic polyadenylation events with quantitative trait loci to reveal how genetic variation may influence human traits and disease susceptibility.
• GWAS colocalization: Reports colocalization results between GWAS findings and ipaQTLs to pinpoint loci potentially mediated by intronic polyadenylation.

Scientific Applications:

• Trait and disease genetics: Enables investigation of genetic contributors to complex traits and diseases via intronic APA associations.
• Novel gene discovery: Supports identification of candidate disease-associated genes through ipaQTL mapping.
• Interpretation of non-coding variation: Facilitates interpretation of non-coding GWAS signals by providing mechanistic links to intronic polyadenylation.

Methodology:

Constructed from 15,170 GTEx v8 RNA-seq samples (838 individuals, 49 tissues), the atlas identifies ~0.98 million SNP–intronic APA associations and reports colocalization results between GWAS findings and ipaQTLs.