benjamin-cogne/Sashimi-viewer
A privacy-preserving, browser-based clinical RNA-seq visualization framework linking genomic variants to patient-specific splice evidence, with local BAM/CRAM processing, transcript-aware HGVS interpretation, read-level allele/splicing association and functional consequence visualization.
GitHub repository with 8 stars and 1 forks.
Language: HTML
Topics: clinical-report, genetics, hgvs, rna-seq, sashimi