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Highly Accurate SNP and Indel Calling on PacBio CCS with DeepVariant

Jason Chin
Andrew Carroll
(2019)

Abstract

In this blog we discuss the newly published use of PacBio Circular Consensus Sequencing (CCS) at human genome scale. We demonstrate that DeepVariant trained for this data type achieves similar accuracy to available Illumina genomes, and is the only method to achieve competitive accuracy in Indel calling. Early access to this model is available now by request, and we expect general availability in our next DeepVariant release (v0.8).