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

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. Th...

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Bibliographic Details
Main Authors: Șenay Kafkas, Marwa Abdelhakim, Mahmut Uludag, Azza Althagafi, Malak Alghamdi, Robert Hoehndorf
Format: Article
Language:English
Published: BMC 2023-07-01
Series:BMC Bioinformatics
Subjects:
Variant ranking
Variant prioritization
Text mining
Next generation sequencing
Genomics
Online Access:https://doi.org/10.1186/s12859-023-05406-w

Internet

https://doi.org/10.1186/s12859-023-05406-w

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