E. Dolzhenko

LRP2: A proteogenomics pipeline for long-read informed protein isoform analysis and discovery.

SUMMARY Most human genes produce multiple RNA isoforms, yet it remains unclear which isoforms are translated into stable, functional proteins. Long-read RNA sequencing resolves full-length transcript structures and, when paired with mass spectrometry, can provide empirical evidence of isoform translation. Despite this...

Enrichment of Repeat Expansions in FGF14 Associated with Amyotrophic Lateral Sclerosis

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...