Note: Scoring of VCF files with CADD v1.7 is still rather slow if many new variants need to be calculated from scratch (e.g., if many insertion/deletion or multinucleotide subsitutions are included). If possible use the pre-scored whole genome and pre-calculated indel files directly where possible. We are very sorry for the inconvenience.

Supplementary Materials of "A general framework for estimating the relative pathogenicity of human genetic variants" by Kircher & Witten et al. 2014

The script for generating simulated single nucleotide and indel variants as well as the parameter files used to simulate the variants for the above manuscript are available for download here. This software is released under a MIT license (license text available from the ZIP-archive). Please see the README file contained in the ZIP-archive for further information about the software.