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Article

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

BMC bioinformatics - 21 Jul 2023

Kafkas Șenay, Abdelhakim Marwa, Uludag Mahmut, Althagafi Azza, Alghamdi Malak, Hoehndorf Robert

Abstract excerpt

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...

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PMID: 37479972
DOI: 10.1186/s12859-023-05406-w
PMCID: PMC10362560

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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