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).
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 |
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
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
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.