phers

Authors Jake Hughey, Layla Aref

Last update 3 March 2026

Copyright license GNU General Public License, version 2.0

Software version identifier 1.0.2, PACKAGES.rds, 0.0.2, 0.0.3, 1.0.0, 1.0.5

Description

Use phenotype risk scores based on linked clinical and genetic data to study Mendelian disease and rare genetic variants. See Bastarache et al. 2018 <doi:10.1126/science.aal4043>.

Cites work

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

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