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.

语言：HTML · GitHub 星标：18 · Fork：1

话题：clinical-report · genetics · hgvs · rna-seq · sashimi

在 GitHub 上查看原仓库