Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomes.

ABSTRACT:

Background

Identifying variants associated with diseases is a challenging task in medical genetics research. Current studies that prioritize variants within individual genomes generally rely on known variants, evidence from literature and genomes, and patient symptoms and clinical signs. The functionalities of the existing tools, which rank variants based on given patient symptoms and clinical signs, are restricted to the coverage of ontologies such as the Human Phenotype Ontology (HPO). However, most clinicians do not limit themselves to HPO while describing patient symptoms/signs and their associated variants/genes. There is thus a need for an automated tool that can prioritize variants based on freely expressed patient symptoms and clinical signs.

Results

STARVar is a Sym

SUBMITTER: Kafkas S 

PROVIDER: S-EPMC10362560 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature