In bhattacharya-a-bt/isoTWAS: Isoform-level transcriptome-wide association studies

knitr::opts_chunk$set(
  collapse = TRUE,
  comment = "#>"
)

library(isotwas)

isotwas provides functions to run transcriptome-wide association studies on the isoform-level.

Isoform-level analyses can provide further granularity to a gene-trait association by pinpointing the isoform of a given gene that drives the association. Furthermore, if two isoforms of the same genes have associations with divergent effect sizes, then gene-level trait mapping will likely miss this association but isoform-level trait mapping will not.

{width="700"}

isotwas contains functions for:

training multivariate predictive models for isoform-level expression from a set of genetic variants,
conducting trait mapping on the isoform-level using stage-wise hypothesis testing, and
probabilistic fine-mapping

{width="700"}