Integrated scRNA-seq (GSE145668, GSE214207; 62,072 cells/22 samples), scATAC-seq (Zenodo 5747633) and GWAS data (FinnGen R13, GCST90473132, GCST90475783) to resolve how inherited susceptibility converges on cytotoxic immune programmes associated with HSPC suppression in aplastic anaemia. The analysis combined harmony integration and ArchR chromatin accessibility, motif analysis, peak-to-gene linking and T-cell trajectory modelling, then incorporated METAL meta-analysis, SuSiE-RSS fine-mapping and S-LDSC to prioritize genetically supported regulatory mechanisms.
DOI: https://doi.org/10.64898/2026.08.18.26360745