Accurate detection of mosaic variants in sequencing data without matched controls
Accurate detection of mosaic variants in sequencing data without matched controls
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Publisher
New York: Nature Publishing Group US
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Language
English
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Publisher
New York: Nature Publishing Group US
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Contents
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 method that leverages read-based phasing and read-level...
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Full title
Accurate detection of mosaic variants in sequencing data without matched controls
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7065972
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7065972
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ISSN
1087-0156
E-ISSN
1546-1696
DOI
10.1038/s41587-019-0368-8
