Skip to contents

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.

isotwas contains functions for:

  1. training multivariate predictive models for isoform-level expression from a set of genetic variants,

  2. conducting trait mapping on the isoform-level using stage-wise hypothesis testing, and

  3. probabilistic fine-mapping