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Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2019

Jagadeesh Karthik A, Birgmeier Johannes, Guturu Harendra, Deisseroth Cole A, Wenger Aaron M, Bernstein Jonathan A, Bejerano Gill

Abstract excerpt

PURPOSE: Exome sequencing and diagnosis is beginning to spread across the medical establishment. The most time-consuming part of genome-based diagnosis is the manual step of matching the potentially long list of patient candidate genes to patient phenotypes to identify the causative disease. METHODS: We introduce Phrank (for phenotype ranking), an information theory-inspired method that utilizes a Bayesian...

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PMID: 29997393
DOI: 10.1038/s41436-018-0072-y

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