scleroderma

Python analysis package for somatic mutations and clonal hematopoiesis (CHIP) in blood exome sequencing from a systemic sclerosis cohort. Runs on ANNOVAR-annotated Mutect2 calls and covers mutation burden, CHIP prevalence and clinical associations, mutational signatures and GWAS convergence.

SSc skin yields six times fewer fibroblast nuclei than healthy skin in GSE312129, a composition confound for any between-group claim from that dataset.