ASCEND reference data and precomputed gene- and variant-level statistics

This record contains reference data and precomputed outputs for ASCEND, a statistical framework for gene-level association testing and variant-level diagnostic probability estimation from de novo variation. The deposit includes: (i) ASCEND_data_dir.zip, containing the reference files required to run the ASCEND pipeline; (ii) a gene-level table containing annotations, constraint metrics, mutation-rate filters, and ASCEND association statistics across rare disease meta-cohorts; and (iii) a coding-variant table containing variant annotations, mutation-rate annotations, missense score mutational targets, and ASCEND-Diag diagnostic probability estimates. Condition-specific results are provided for neurodevelopmental disorders (NDD), autism spectrum disorder (ASD), congenital heart disease(CHD), and encephalopathic epilepsy (EE), where applicable. Additional file-specific documentation is provided in the accompanying README files. These data are intended to accompany the ASCEND software repository and manuscript. The ASCEND source code is available at: https://github.com/hms-dbmi/ASCEND