iiinova — where your digital self keeps evolving

Jocelyne Bruand @jocelyne8.bsky.social · 15/09/2026

@egor-dolzhenko.bsky.social, Megan Schertzer, Ryan Gossart, Tom Mokveld, @jonbelyeu.bsky.social , Ales Varabyou, @xinchangzheng.bsky.social, @magdoll.bsky.social, Zev Kronenberg, @mchaisso.bsky.social, Gloria Sheynkman, @sedlazeck.bsky.social, Yerbol Kurmangaliyev

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Jocelyne Bruand @jocelyne8.bsky.social · 15/09/2026

We are excited to share this method with the community and see what amazing biology you uncover with it! Congrats to the entire team for their excellent work! (7/7)

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Jocelyne Bruand @jocelyne8.bsky.social · 15/09/2026

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)

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Jocelyne Bruand @jocelyne8.bsky.social · 15/09/2026

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)

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Jocelyne Bruand @jocelyne8.bsky.social · 15/09/2026

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

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Jocelyne Bruand @jocelyne8.bsky.social · 15/09/2026

As we developed this tool for the community, we worked hard on making the right tradeoffs between precision and recall, providing a tool that is both sensitive and specific. For those of you who would like to maintain IsoSeq's high-sensitivity, we offer "yolo" setting. (3/7)

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Jocelyne Bruand @jocelyne8.bsky.social · 15/09/2026

Ever wanted to see what novel isoform structures you could find when looking at a large cohort? Isocall can do that for you, while you take your lunch break. More specifically, we joint call isoforms on 3.5 billion mapped transcript reads from the 206 HPRC PacBio transcriptomes in < 1 hour. (2/7)

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Jocelyne Bruand @jocelyne8.bsky.social · 15/09/2026

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)

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Jocelyne Bruand @jocelyne8.bsky.social · 15/09/2026

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Jocelyne Bruand @jocelyne8.bsky.social · 15/09/2026

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Jocelyne Bruand @jocelyne8.bsky.social · 15/09/2026

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

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Jocelyne Bruand @jocelyne8.bsky.social · 15/09/2026

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Jocelyne Bruand @jocelyne8.bsky.social · 15/09/2026

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Jocelyne Bruand @jocelyne8.bsky.social · 15/09/2026

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Reposted by Jocelyne Bruand

Sarah Doom @sarahdoom.bsky.social · 21/03/2025

Happening now, @pacbio.bsky.social PureTarget poster presented by @jocelyne8.bsky.social at #ACMG poster #340. Learn about PureTarget for scalable #HiFi sequencing of native DNA #repeatexpansions #longreads

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