MosaicForecast – Identification of Somatic Mutation from bulk Whole-genome Sequencing data

MosaicForecast

:: DESCRIPTION

MosaicForecast is machine learning method that leverages read-based phasing and read-level features to accurately detect mosaic SNVs (SNPs, small indels) from NGS data. It builds on existing algorithms to achieve a multifold increase in specificity.

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::DEVELOPER

Peter Park’s lab at CBMI, Harvard Medical School

:: SCREENSHOTS

N/A

:: REQUIREMENTS

  • Linux / Windows
  • R
  • Python

:: DOWNLOAD

MosaicForecast

:: MORE INFORMATION

Citation

Dou Y, Kwon M, Rodin RE, Cortés-Ciriano I, Doan R, Luquette LJ, Galor A, Bohrson C, Walsh CA, Park PJ.
Accurate detection of mosaic variants in sequencing data without matched controls.
Nat Biotechnol. 2020 Mar;38(3):314-319. doi: 10.1038/s41587-019-0368-8. Epub 2020 Jan 6. PMID: 31907404; PMCID: PMC7065972.

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