Evaluation datasets and pre-computed scores for: "CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations"
Creators
- 1. Genomics Coordination Center & Dept. of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands
Description
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
Files
Files
(23.8 GB)
Name | Size | Download all |
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md5:61393b63c1e5faacacb8a04365482055
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23.8 GB | Download |
md5:6f2b07409d9d86746773370670ceb0e0
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17.1 MB | Download |