lasseignelab/setbp1_hd: Intersection of Regulatory Analysis and Signature Reversion Uncovers Therapeutic Drugs and Targets for SETBP1-HD

Read full text
Authors: Elizabeth J. Wilk, Sasha Taluri, Tabea M. Soelter, Brittany N. Lasseigne
Cited by: 1

Abstract

This repository contains the code and analysis pipeline for identifying repurposable drugs for SETBP1 Haploinsufficiency Disorder (SETBP1-HD). By deriving a consensus transcriptomic signature from in-vitro models and integrating it with SETBP1 regulatory targets, we prioritize FDA-approved therapeutics (such as celecoxib and buspirone) capable of reversing disease-associated molecular disruptions. Public Release Download genome reference and datasets by @lizzyjoan in https://github.com/lasseignelab/setbp1_hd/pull/1 nf-core RNAseq preprocessing by @lizzyjoan in https://github.com/lasseignelab/setbp1_hd/pull/2 Differential expression analysis by @lizzyjoan in https://github.com/lasseignelab/setbp1_hd/pull/5 Eda by @lizzyjoan in https://github.com/lasseignelab/setbp1_hd/pull/4 Derive consensus signature by @lizzyjoan in https://github.com/lasseignelab/setbp1_hd/pull/6 Compile DEA/consensus signature plots for figure 3 and supp figures by @lizzyjoan in https://github.com/lasseignelab/setbp1_hd/pull/7 Add spatiotemporal SETBP1 target permutation analysis by @lizzyjoan in https://github.com/lasseignelab/setbp1_hd/pull/9 Regulatory target prioritization by @lizzyjoan in https://github.com/lasseignelab/setbp1_hd/pull/10 Signature reversion and drug analyses by @lizzyjoan in https://github.com/lasseignelab/setbp1_hd/pull/8 update readme content with overview, dependencies, scripts, data, etc by @lizzyjoan in https://github.com/lasseignelab/setbp1_hd/pull/11 New Contributors @lizzyjoan made their first contribution in https://github.com/lasseignelab/setbp1_hd/pull/1 Full Changelog: https://github.com/lasseignelab/setbp1_hd/commits/v1.0.0

Publication details

Journal / source
Zenodo (CERN European Organization for Nuclear Research)
Publication date
7 May 2026