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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...
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| Udgivet i: | Nat Biotechnol |
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| Main Authors: | , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2020
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7065972/ https://ncbi.nlm.nih.gov/pubmed/31907404 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41587-019-0368-8 |
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