Softwares

Visit GitHub to download the latest version of the Do lab softwares.

Genetic Priority Score

The Genetic Priority Score (GPS) integrates diverse human genetic data to prioritize drug gene targets. GPS is available on GitHub.

MOI-Pred

Provides mode of inheritance prediction for all possible missense variants in the human genome. The MOI-Pred paper has been posted online (Petrazzini et al. medRxiv. 2021)

biPheMap

The biPheMap R shiny app allows the exploration of a phenome-wide network map of colocalized genes and phenotypes from the UK Biobank project in 48 tissues of the GTEx project. The biPheMap paper has been posted online (Rocheleau et al. bioRxiv. 2021)

HOPS

The HOPS package allows to compute the horizontal pleiotropy score (HOrizontal Pleiotropy Score) from summary statistics (Jordan, Verbanck, Do. Genome Biology. 2019). The package includes a shiny visualization tool to visualize and download the full set of HOPS results computed using UK Biobank summary statistics. HOPS is available on GitHub.

MR-PRESSO

The Mendelian Randomization Pleiotropy RESidual Sum and Outlier (MR-PRESSO) is a framework that allows for the evaluation of horizontal pleiotropy in multi-instrument Mendelian Randomization utilizing genome-wide summary association statistics (Verbanck et al. 2018, Nature Genetics). MR-PRESSO has three components, including: 1) detection of horizontal pleiotropy (MR-PRESSO global test) 2) correction of horizontal pleiotropy via outlier removal (MR-PRESSO outlier test) 3) testing of significant distortion in the causal estimates before and after outlier removal (MR-PRESSO distortion test).
MR-PRESSO on GitHub.

srMLGenes

The strong recessive maximum likelihood genes (srMLGenes) web tool is published as a companion to our 2021 paper on inference of recessive selection from human population data (Balick, Jordan, Sunyaev, and Do 2021). It allows exploring inferences of dominance and selection from simulations, as well as gene enrichments in different dominance and selection categories.

The tool and its source data are available on GitHub. A live server running the tool can also be found here.