Dataset for testing the calibration of the variant prediction methods
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Dataset used for testing the calibration of 6 methods for predicting the impact of single nucleotide variants in the publication: <em>Benevenuta S, Capriotti E, Fariselli P</em>. (2021). Calibrating variant-scoring methods for clinical decision making. <strong>Bioinformatics</strong>. DOI: 10.1093/bioinformatics/btaa943. The file contains the following columns: CHROM: Chromosome number POS: Chromosome coordinate REF: Reference Allele ALT: Alternative Allele Coding: Coding Variants (Yes/No) Effect: Variant impact (Pathogenic/Benign) DANN: DANN output PhDSNP: PhD-SNPg output FATHMM: FATHMM output CADD: CADD output DeepSea: DeepSea output Eigen: Eigen output
创建时间:
2021-01-18



