Evaluation datasets and pre-computed scores for: "CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations" - ShuangLi (Zenodo, 2019)
CAPICE is a computational method for predicting the pathogenicity of SNVs and InDels. This new repository added index for CAPICE v1.0 (build37) precomputed files. Repository description: 1) "paper_datasets.tar.gz" contains all datasets used in the CAPICE paper; 2) "capice_v1.0_build37_indels.tsv.gz" contains the precomputed scores for InDels in genome build 37 3) "capice_v1.0_build37_indels.tsv.gz.tbi" contains the index for file"capice_v1.0_build37_indels.tsv.gz" 4) "capice_v1.0_build37_snvs.tsv.gz" contains the precomputed scores for all possible SNVs in genome build 37 5) "capice_v1.0_build37_snvs.tsv.gz.tbi" contains the index for file "capice_v1.0_build37_snvs.tsv.gz"
Keywords: cc0-1.0; Variant Pathogenicity Prediction; Machine Learning; Exome Sequencing; Molecular Consequence; Allele Frequency; Clinical Genetics; Genome Diagnostics