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Author

Jonathan R. Belyeu

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Sep 2026

The Genome In A Bottle HG002 assembly-based variant benchmark set enables comprehensive benchmarking of small and structural variants

The Genome in a Bottle (GIAB) Consortium’s HG002 v5.0q benchmark set is presented, a more comprehensive variant benchmark derived from a fully phased, highly curated, and accurate diploid assembly of HG002 to provide confident small- and structural-variant calls across previously inaccessible regions.

Nathan D. Olson, Nathan Dwarshuis, Nancy F. Hansen et al. · 1 citation
Open access Sep 2026

Isocall enables scalable transcript identification from long-read RNA-sequencing data

Isocall, a scalable and deterministic computational method for jointly calling transcripts from multiple PacBio long-read RNA sequencing samples, converts aligned full-length non-concatemer reads into compact per-sample transcript profiles, merges these profiles across samples, and jointly identifies known and novel tr...

E. Dolzhenko, Megan D. Schertzer, Ryan Gossart et al. · 1 citation

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