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Faster and more accurate pathogenic combination predictions with VarCoPP2.0
BACKGROUND: The prediction of potentially pathogenic variant combinations in patients remains a key task in the field of medical genetics for the understanding and detection of oligogenic/multilocus diseases. Models tailored towards such cases can help shorten the gap of missing diagnoses and can ai...
| 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/PMC10152795/ https://www.ncbi.nlm.nih.gov/pubmed/37127601 http://dx.doi.org/10.1186/s12859-023-05291-3 |