Long-read RNA sequencing has revealed extensive transcript diversity, but newly observed isoforms remain difficult to interpret beyond their classification as known or novel. Here, we present IsoAtlas, an interactive multispecies database for visual exploration and population-scale interpretation of transcript isoforms...
Xin-Chang Zheng, F. Sedlazeck· bioRxiv· 0 citations
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.· bioRxiv· 1 citation
This Primer outlines the computational foundations of long-read whole-genome analysis in human genomics, spanning read processing, mapping, de novo assembly, multi-class variant detection, haplotype phasing, repeat analysis and epigenetic profiling, and highlights key analytical trade-offs between mapping-based and ass...
Xin-Chang Zheng, P. Sanio, Rui-Bang Luo et al.· Nature Reviews Methods Prime...· 0 citations
An integrated wet-lab and computational platform designed to overcome barriers to population-scale long-read RNA sequencing, providing a scalable, community-ready framework for isoform-resolved transcriptomics in neurodegeneration, aging, and complex brain disease.
C. Kouam, Jackson Mingle, Pilar Álvarez Jerez et al.· bioRxiv· 0 citations
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