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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2020
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| Materias: | |
| 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 |