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#29 Haplotype-aware genotyping from long reads with Trevor Pesout
Manage episode 226020697 series 1537951
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:
If you enjoyed this episode, please consider supporting the podcast on Patreon.
70 епізодів
Manage episode 226020697 series 1537951
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:
If you enjoyed this episode, please consider supporting the podcast on Patreon.
70 епізодів
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