Twitxy Saved

Chris Saunders

@ctsa11

Rare disease and cancer analysis models for sequencing data. Scientist at PacBio. Art school survivor. Views my own. genomic.social/@csaunders
San Diego, CA linkedin.com/in/christopher… Joined July 2010
939 Following 941 Followers 293 Posts

Latest posts 5

Chris Saunders @ctsa11
We've been making steady usability updates to the sawfish SV caller thanks to user feedback, including a new feature to output all supporting reads for each SV. The latest binary, user guide, and (new) source code release are available on github here:

github.com/PacificBioscie…
github.com GitHub - PacificBiosciences/sawfish: Joint structural variant and copy number variant caller for... Joint structural variant and copy number variant caller for HiFi sequencing data - PacificBiosciences/sawfish
We assessed our new method on the recent draft GIAB SV benchmark from the T2T-HG002-Q100 assembly, finding sawfish has the highest F1-score among evaluated callers on every tested SV size range and depth level. Other callers required at least 30x depth to reach sawfish at 15x:
View quoted post on X
0 replies 6 reposts 34 likes 3.4K views View on X
Chris Saunders @ctsa11
Great sawfish clip and thanks for all your help too @zevkronenberg! ...also thanks to additional coauthors @jon_belyeu & @juniper_a_lake

Sawfish summary thread here for a quick results summary:
x.com/ctsa11/status/…
Zev Kronenberg @zevkronenberg Aug 20, 2024
Local assembly of @PacBio HiFi for exceptionally accurate structural variant detection. Work by @ctsa11 @holtjma @nothingclever @dnb_hopkins @MikeEberle

software: github.com/PacificBioscie…
Preprint:
doi.org/10.1101/2024.0…
View quoted post on X
Chris Saunders @ctsa11
We’ve graduated HiFiCNV to 1.0 to recognize that it’s now a stable part of our HiFi WGS toolchain -- to celebrate we’ve added a few quality-of-life and error-handling improvements. Find more details on our latest github release here:

github.com/PacificBioscie…
github.com Releases · PacificBiosciences/HiFiCNV Copy number variant caller and depth visualization utility for PacBio HiFi reads - Releases · PacificBiosciences/HiFiCNV