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isotwas

Welcome to isotwas, a package that facilitates isoform-level transcriptome wide associations studies. This package contains models to train multivariate predictive models of isoform-level expression and run isoform-level trait mapping to identify genetic associations with complex traits.

To install: devtools::install_github("bhattacharya-a-bt/isotwas")

Pre-computed isoTWAS models for 48 GTEx tissues and adult and developmental cortex (PsychENCODE; Gandal et al 2018, Science and Walker et al 2019, Cell) are provided on Zenodo at the following links: GTEx (https://zenodo.org/records/11048201), adult cortex (https://zenodo.org/records/10642062), and developmental cortex (https://zenodo.org/records/10642128). Please cite the manuscript and the Zenodo link when using these models in your work.