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Jon Belyeu

@jonbelyeu.bsky.social

472 followers 570 following 17 posts

Bioinformatics scientist at PacBio, previously Illumina. I develop software tools in Rust and Python for genome analysis. orcid.org/0000-0001-5470-8299

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Jon Belyeu @jonbelyeu.bsky.social · 09/10/2025

Here's an example from the paper: a complex rearrangement shown with svtopo (top), IGV (middle), and Ribbon (bottom):

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Jon Belyeu @jonbelyeu.bsky.social · 22/04/2025

This example might look at first glance like a bad representation of a translocation, but the SVA annotation is a giveaway - reads from chr12 and chr19 aligned to a random SVA retrotransposon rather than a real connection between three chromosomes.

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Jon Belyeu @jonbelyeu.bsky.social · 22/04/2025

We looked at SVTopo images for 7 unrelated samples (HG002 and 6 from the platinum pedigrees cohort: 10.1101/2024.10.02.616333) and observed 142 unique complex SVs that we put in 11 categories (fig2).

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Jon Belyeu @jonbelyeu.bsky.social · 22/04/2025

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)

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Jon Belyeu @jonbelyeu.bsky.social · 13/11/2024

#ASHG2024 was a blast. I had great discussions with friends and #pacbio collaborators, presented a poster on my new tool SVTopo, welcomed #PacBioVega to the world, and realized than I'm a bigger fan of One Republic than I knew before. Excited for next time!

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