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Improving variant calling using population data and deep learning

Large-scale population variant data is often used to filter and aid interpretation of variant calls in a single sample. These approaches do not incorporate population information directly into the process of variant calling, and are often limited to filtering which trades recall for precision. In th...

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Detalles Bibliográficos
Autores principales: Chen, Nae-Chyun, Kolesnikov, Alexey, Goel, Sidharth, Yun, Taedong, Chang, Pi-Chuan, Carroll, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10182612/
https://www.ncbi.nlm.nih.gov/pubmed/37173615
http://dx.doi.org/10.1186/s12859-023-05294-0