Haplotype-aware genotyping from long reads with Trevor Pesout (#29)
January 27, 2019
Long read sequencing technologies, such as Oxford Nanopore and PacBio, produce reads from thousands to a million base pairs in length, at the cost of the increased error rate. Trevor Pesout describes how he and his colleagues leverage long reads for simultaneous variant calling/genotyping and phasing. This is possible thanks to a clever use of a hidden Markov model, and two different algorithms based on this model are now implemented in the MarginPhase and WhatsHap tools.

Links:
Don't miss the next episode! Subscribe on Apple Podcasts, Google Podcasts, Spotify, or via the RSS feed link. You can also follow the podcast on Twitter and Mastodon.
Music: Eric Skiff — Come and Find Me (modified, licensed under CC BY 4.0).