A cross-disorder dosage sensitivity map of the human genome

This repository contains data from Collins et al., A cross-disorder dosage sensitivity map of the human genome (2022), including:

1. Collins_rCNV_2022.dosage_sensitivity_scores.tsv.gz: This file contains predicted probabilities of haploinsufficiency (pHaplo) and triplosensitivity (pTriplo) for 18,641 autosomal protein-coding genes as defined in Gencode v19.

2. Collins_rCNV_2022.sliding_window_sumstats.tar.gz: This compressed directory contains rCNV association summary statistics for 54 phenotypes from genome-wide sliding window meta-analyses. Please refer to the README file included in this compressed directory for more details.

3. Collins_rCNV_2022.gene_association_sumstats.tar.gz: This compressed directory contains rCNV association summary statistics for 54 phenotypes from exome-wide gene-based meta-analyses. Please refer to the README file included in this compressed directory for more details. 

4. Collins_rCNV_2022.gene_features_matrix.tar.gz: This compressed directory contains gene-level feature annotations for 145 features and 18,641 autosomal protein-coding genes. Please refer to the README file included in this compressed directory for more details. 

Smaller data files have been provided as supplemental tables alongside the publication online.

Please also refer to the original publication for details on data sources, study design, methods, and other analyses.