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

    Dataset

    Description

    CAPICE is a computational method for predicting the pathogenicity of SNVs and InDels. It is a gradient boosting tree model trained using a variety of genomic annotations used by CADD score and trained on the clinical significance. CAPICE performs consistently across diverse independent synthetic, and real clinical data sets. It ourperforms the current best method in pathogenicity estimation for variants of different molecular consequences and allele frequency.
    The dataset contains precomputed scores.
    "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.
    Datum van beschikbaarheid31-okt-2019
    UitgeverUniversity of Groningen

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