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MOI-Preda machine learning method to predict missense variants that cause recessive disease, described in Petrazzini et al. 2021.

srMLGenes: an interactive tool to explore enrichments for strong recessive selection in human genes, described in Balick, Jordan, Sunyaev, & Do 2022. 

HOPS: a library to compute the HOrizontal Pleiotropy Score from GWAS summary statistics, described in Jordan, Verbanck, & Do 2019.

CPD Prediction: an online tool to calculate the likelihood of a variant being predicted benign due to compensation in the vertebrate lineage, described in Jordan, Frangakis, et al. 2015.

PolyPhen-HCMa method to predict disease-specific effects of variants on hypertrophic cardiomyopathy, described in Jordan, Kiezun, Baxter, et al. 2011.

SOFTWARE

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