Accurate detection of mosaic variants in sequencing data without matched controls.
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ABSTRACT:
SUBMITTER: Dou Y
PROVIDER: S-EPMC7065972 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Publications
Accurate detection of mosaic variants in sequencing data without matched controls.
Dou Yanmei Y Kwon Minseok M Rodin Rachel E RE Cortés-Ciriano Isidro I Doan Ryan R Luquette Lovelace J LJ Galor Alon A Bohrson Craig C Walsh Christopher A CA Park Peter J PJ
Nature biotechnology 20200106 3
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 features to accurately detect mosaic single-nucleotide variants and indels, achieving a multifold increase in specificity compared with existing algo ...[more]
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