Dataset for testing the calibration of the variant prediction methods

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本数据集用于验证发表于论文《Benevenuta S, Capriotti E, Fariselli P》(2021)《面向临床决策的变异评分方法校准（Calibrating variant-scoring methods for clinical decision making）》（刊载于《生物信息学》，DOI: 10.1093/bioinformatics/btaa943）中的6种单核苷酸变异（single nucleotide variants, SNV）影响预测方法的校准性能。该数据集文件包含以下列：CHROM：染色体编号；POS：染色体坐标；REF：参考等位基因；ALT：替代等位基因；Coding：是否为编码变异（是/否）；Effect：变异影响类型（致病性/良性）；DANN：DANN算法输出结果；PhDSNP：PhD-SNPg算法输出结果；FATHMM：FATHMM算法输出结果；CADD：CADD算法输出结果；DeepSea：DeepSea算法输出结果；Eigen：Eigen算法输出结果。