Systematic visualisation of molecular QTLs reveals variant mechanisms at GWAS loci.

ABSTRACT: Splicing quantitative trait loci (QTLs) have been implicated as a common mechanism underlying complex trait associations. However, utilising splicing QTLs in target discovery and prioritisation has been challenging due to extensive data normalisation which often renders the direction of the genetic effect as well as its magnitude difficult to interpret. This is further complicated by the fact that strong expression QTLs often manifest as weak splicing QTLs and vice versa, making it difficult to uniquely identify the underlying molecular mechanism at each locus. We find that these ambiguities can be mitigated by visualising the association between the genotype and average RNA sequencing read coverage in the region. Here, we generate these QTL coverage plots for 1.7 million molecular QTL ass

SUBMITTER: Kerimov N 

PROVIDER: S-EPMC10104061 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature