Chris Saunders
@ctsa.bsky.social
Rare disease and cancer analysis models for sequencing data. Scientist at PacBio. Art school survivor. Views my own.
Nice to chat at CSHL last week. I missed the chance to tell you in person what a valuable resource these videos have been, I think I've seen every one. Even for well-known topics, the clarity of presentation can really sharpen intuition. Thanks for the great work.
November 10, 2025 at 6:00 PM
Nice to chat at CSHL last week. I missed the chance to tell you in person what a valuable resource these videos have been, I think I've seen every one. Even for well-known topics, the clarity of presentation can really sharpen intuition. Thanks for the great work.
In addition to CNV recall and breakpoint accuracy improvements, this update boosts precision for large, unbalanced SVs and simplifies analysis by harmonizing all depth and breakpoint evidence into one consistent call set. The full update is now available in the most recent sawfish2 release on github
GitHub - PacificBiosciences/sawfish: Joint structural variant and copy number variant caller for HiFi sequencing data
Joint structural variant and copy number variant caller for HiFi sequencing data - PacificBiosciences/sawfish
github.com
May 20, 2025 at 12:52 AM
In addition to CNV recall and breakpoint accuracy improvements, this update boosts precision for large, unbalanced SVs and simplifies analysis by harmonizing all depth and breakpoint evidence into one consistent call set. The full update is now available in the most recent sawfish2 release on github
Reposted by Chris Saunders
This example is hard to understand from e.g. IGV/Ribbon (see Fig1) but pretty simple in SVTopo: 4 blocks deleted (B,D,F,H), 2 inverted (E,G), 1 re-ordered (C)
April 22, 2025 at 2:22 PM
This example is hard to understand from e.g. IGV/Ribbon (see Fig1) but pretty simple in SVTopo: 4 blocks deleted (B,D,F,H), 2 inverted (E,G), 1 re-ordered (C)
Finally, a huge thank-you to all sawfish co-authors and the broader @pacbio.bsky.social team, our anonymous reviewers, SV community members, and users for their contributions, feedback and many helpful suggestions!
April 10, 2025 at 3:41 PM
Finally, a huge thank-you to all sawfish co-authors and the broader @pacbio.bsky.social team, our anonymous reviewers, SV community members, and users for their contributions, feedback and many helpful suggestions!