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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2023
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| Materias: | |
| 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 |