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Yanmei's paper is out today. MosaicForecast uses 30+ read-level features (+ML) to identify mosaic mutations in normal cells, where the variant allele fraction is << what you typically see in cancer cells. A key innovation is to use haplotype phasing to generate a training set.https://twitter.com/NatureBiotech/status/1214235046955167744 …
Here is the flowchart of the algorithm. It is intuitively clear that algorithms that incorporate more features at the read-level should perform better (as some recent algorithms do); the hard part was coming up with enough true positives to train the classifier.pic.twitter.com/cCbl8lWV11
