ShuangLi
2019-10-31
<p>CAPICE is a computational method for predicting the pathogenicity of SNVs and InDels.</p>
<p>This new repository added index for CAPICE v1.0 (build37) precomputed files.</p>
<p><strong>Repository description:</strong></p>
<p>1) "paper_datasets.tar.gz" contains all datasets used in the CAPICE paper;</p>
<p>2) "capice_v1.0_build37_indels.tsv.gz" contains the precomputed scores for InDels in genome build 37</p>
<p>3) "capice_v1.0_build37_indels.tsv.gz.tbi" contains the index for file"capice_v1.0_build37_indels.tsv.gz"</p>
<p>4) "capice_v1.0_build37_snvs.tsv.gz" contains the precomputed scores for all possible SNVs in genome build 37</p>
<p>5) "capice_v1.0_build37_snvs.tsv.gz.tbi" contains the index for file "capice_v1.0_build37_snvs.tsv.gz"</p>
<p> </p>
https://doi.org/10.5281/zenodo.3928295
oai:zenodo.org:3928295
Zenodo
https://doi.org/10.5281/zenodo.3516247
info:eu-repo/semantics/openAccess
Creative Commons Zero v1.0 Universal
https://creativecommons.org/publicdomain/zero/1.0/legalcode
Variant Pathogenicity Prediction
Machine Learning
Exome Sequencing
Molecular Consequence
Allele Frequency
Clinical Genetics
Genome Diagnostics
Evaluation datasets and pre-computed scores for: "CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations"
info:eu-repo/semantics/other