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...

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Detalles Bibliográficos
Autores principales: Versbraegen, Nassim, Gravel, Barbara, Nachtegael, Charlotte, Renaux, Alexandre, Verkinderen, Emma, Nowé, Ann, Lenaerts, Tom, Papadimitriou, Sofia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Software
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

Internet

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

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