Method of machine learning, employing bayesian latent class inference: combining multiple genomic feature detection algorithms to produce an integrated genomic feature set with specificity, sensitivity and accuracy

Abstract

BAYSIC (BAYesian System for Integrated Combination) combines sets of genomic and other biological data features to optimize selected data feature attributes, for example, detecting genome variants including single nucleotide variants (SNVs) and small insertion/deletions in genomes. The present disclosure presents one possible embodiment employing BAYSIC to combine single nucleotide variants detected by several distinct variant calling methods into an integrated SNV call set that is more accurate than any single SNV calling method or any ad hoc method of combining call sets. BAYSIC is a, tested and validated method using unsupervised machine learning, employing Bayesian latent class inference to combine variant sets produced by different packages.

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