PacBio (PACB) announced the results of a study published in Nature Methods describing a new, comprehensive truth-set of genomic variation which characterizes simple and complex variation. These improved benchmarks were used to retrain Google’s (GOOGL) DeepVariant resulting in a 34% reduction in erroneously called variants. This resource was built by scientists from PacBio in collaboration with researchers at the University of Washington, the University of Utah, and several other institutions. Combining inheritance-based validation with long-read sequencing, this benchmark accurately characterizes variants, even in difficult, repeat rich regions of the genome, producing the most complete view of validated genetic variation to date.
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