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

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 functi...

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Detalles Bibliográficos
Autores principales: Kafkas, Șenay, Abdelhakim, Marwa, Uludag, Mahmut, Althagafi, Azza, Alghamdi, Malak, Hoehndorf, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Software
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362560/
https://www.ncbi.nlm.nih.gov/pubmed/37479972
http://dx.doi.org/10.1186/s12859-023-05406-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10362560/
https://www.ncbi.nlm.nih.gov/pubmed/37479972
http://dx.doi.org/10.1186/s12859-023-05406-w

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