Extended Data Fig. 1: Quantification methods for molecular traits in the eQTL Catalogue.
From: A compendium of uniformly processed human gene expression and splicing quantitative trait loci
Symbolic representation of 23 read fragments assigned to one gene (aligned with HISAT2, quantified with featureCounts) consisting of two transcripts (quantified with Salmon) and six exonic parts (annotated with DEXSeq, quantified with featureCounts). The gene also has five distinct introns which are identified and quantified by Leafcutter. Transcriptional event usage is quantified with txrevise. Txrevise uses shared exons as a scaffold to identify independent transcriptional events corresponding to alternative promoters, internal exons and 3ʹ ends. Leafcutter splice junction QTLs will be included in a future version of the eQTL Catalogue.
