Accurate detection of mosaic variants in sequencing data without matched controls

Detection of mosaic mutations that arise in normal development is challenging, as such mutations are typically present in only a minute fraction of cells and there is no clear matched control for removing germline variants and systematic artifacts. We present MosaicForecast, a machine-learning metho...

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Detalles Bibliográficos
Autores principales: Dou, Yanmei, Kwon, Minseok, Rodin, Rachel E., Cortés-Ciriano, Isidro, Doan, Ryan, Luquette, Lovelace J., Galor, Alon, Bohrson, Craig, Walsh, Christopher A., Park, Peter J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7065972/
https://www.ncbi.nlm.nih.gov/pubmed/31907404
http://dx.doi.org/10.1038/s41587-019-0368-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7065972/
https://www.ncbi.nlm.nih.gov/pubmed/31907404
http://dx.doi.org/10.1038/s41587-019-0368-8

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