Leveraging clinical intuition to improve accuracy of phenotype-driven prioritization.

ABSTRACT:

Purpose

Clinical intuition is commonly incorporated into the differential diagnosis as an assessment of the likelihood of candidate diagnoses based either on the patient population being seen in a specific clinic or on the signs and symptoms of the initial presentation. Algorithms to support diagnostic sequencing in individuals with a suspected rare genetic disease do not yet incorporate intuition and instead assume that each Mendelian disease has an equal pretest probability.

Methods

The LIkelihood Ratio Interpretation of Clinical AbnormaLities (LIRICAL) algorithm calculates the likelihood ratio of clinical manifestations represented by Human Phenotype Ontology terms to rank candidate diagnoses. The initial version of LIRICAL assumed an equal pretest probability for each di

SUBMITTER: Beckwith MA 

PROVIDER: S-EPMC11843448 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature