Ben Langmead

benlangmead.bsky.social

29 September 2026 10:48

Please interpret my "like" as "please enjoy and be safe" 😉

Our Isocall paper is out on bioRxiv www.biorxiv.org/content/10.6...! 🎉 Isocall enables scalable joint isoform calling on PacBio data, allowing for the characterization of isoform diversity across cohort-scale data. (1/7)

We want to make sure everyone lives and breathe isoform calling on their own terms. (4/7)

When looking at all isoforms called by different tools across a set of replicates, the joint-calling method shines. Transcripts uniquely identified by Isocall showed the highest levels of both cross-replicate support and orthogonal support at the population level. (5/7)

But that's not all! We used the GIAB transcriptomes with matched genotypes to discover changes in splicing patterns driven by genetic variation. In particular, a heterozygous A-to-T variant in HG005 in the BTN3A1 gene creates a de novo donor site, inserting a de novo 98 bp long exon. (6/7)