Evaluation datasets and pre-computed scores for: "CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations"

CAPICE is a computational method for predicting the pathogenicity of SNVs and InDels.

Repository description:

1) "paper_datasets.tar.gz" contains all datasets used in the CAPICE paper;

2) "CAPICE_v1.0_GRCh37_whole_genome_SNVs_InDels.tsv.gz" contains the precomputed scores for all possible SNVs and InDels in genome build 37. The gzip file contains two sub-directories, namely, "SNVs" and "InDels". Within each sub-directory, there are gzip files containing precomputed scores per chromosome.

Commands:

1) To view the content:

tar -tf /path/to/the/compressed/file

2) To de-compress:

tar -C /path/to/store/decompressed/files --to-command='tar -xzvf -' -xzvf /path/to/the/compressed/file