Improving Variant Calling using Haplotype Information

Andrew Carroll
Daniel Cook
(2021)

Abstract

In this blog, we discuss a new channel in DeepVariant which encodes haplotype information in long-read data, and was released with DeepVariant v1.1. We review how haplotypes relate to variant calling, show examples improved by the channel, and quantify the accuracy improvement with PacBio HiFi.

Research Areas

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