Rare Copy Number Variation Project

Aggregation and analyses of rare CNVs across human disease phenotypes

Copyright (c) 2019-Present, Ryan L. Collins and the Talkowski Laboratory.
Distributed under terms of the MIT License (see LICENSE).

Table of Contents

Note: most subdirectories have their own documentation, which outlines specific details pertaining to that topic

Subdirectory	Description
analysis/	Code for CNV analyses
config/	Configuration files for default parameters, etc.
data_curation/	Code for filtering & curation of CNV and annotation data
docker/	Dockerfile to build rCNV Docker image
refs/	Small reference files
source/	Source code for companion R package
utils/	Miscellaneous small utilities and scripts

Citation

If you use the code in this repository, please cite:

Collins et al., A cross-disorder dosage sensitivity map of the human genome, medRxiv (2021). DOI: 10.1101/2021.01.26.21250098

Data access

The following datasets are hosted on Zenodo:

• Association summary statistics from genome-wide sliding window meta-analyses for 54 phenotypes
• Association summary statistics from exome-wide gene-based meta-analyses for 54 phenotypes
• Feature matrix of 145 genomic annotations for all autosomal protein-coding genes
• Haploinsufficiency and triplosensitivity scores for all autosomal protein-coding genes

Docker

System dependencies for rCNV data processing & analyses are managed via Docker.

The public Docker image for this project is gcr.io/gnomad-wgs-v2-sv/rcnv.