Chris Saunders
@ctsa.bsky.social
Rare disease and cancer analysis models for sequencing data. Scientist at PacBio. Art school survivor. Views my own.
In Stockholm for work and got a great recommendation to Klättercentret Telefonplan for a boulder break last night. Great gym all around and easy hop on the metro from city center.
October 5, 2025 at 6:25 AM
In Stockholm for work and got a great recommendation to Klättercentret Telefonplan for a boulder break last night. Great gym all around and easy hop on the metro from city center.
Just released a major update to the sawfish SV caller, which adds CNV calling and integration. Assessment on a set of pathogenic CNVs from Gross et al. shows this integrated-call strategy can substantially improve (single-method) recall, especially at lower HiFi sequencing depths
May 20, 2025 at 12:52 AM
Just released a major update to the sawfish SV caller, which adds CNV calling and integration. Assessment on a set of pathogenic CNVs from Gross et al. shows this integrated-call strategy can substantially improve (single-method) recall, especially at lower HiFi sequencing depths
To assess multi-sample calling, we examined genotype pedigree concordance across SV calls from the 2nd and 3rd generations of CEPH-1463, finding that sawfish has over 9000 more pedigree-concordant calls compared to other methods while retaining the highest proportion of concordant SVs:
April 10, 2025 at 3:41 PM
To assess multi-sample calling, we examined genotype pedigree concordance across SV calls from the 2nd and 3rd generations of CEPH-1463, finding that sawfish has over 9000 more pedigree-concordant calls compared to other methods while retaining the highest proportion of concordant SVs:
We assessed sawfish on the recent draft GIAB SV benchmark from the T2T-HG002-Q100 assembly, finding that it 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’s accuracy at 15x:
April 10, 2025 at 3:41 PM
We assessed sawfish on the recent draft GIAB SV benchmark from the T2T-HG002-Q100 assembly, finding that it 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’s accuracy at 15x: