ArXiv论文作者在Figshare上也放了数据集: https://figshare.com/collections/FUMPE/4107803/1
Dataset for testing the calibration of the variant prediction methods
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下载链接:
https://zenodo.org/record/4448196
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资源简介:
Dataset used for testing the calibration of 6 methods for predicting the impact of single nucleotide variants in the publication:
Benevenuta S, Capriotti E, Fariselli P. (2021). Calibrating variant-scoring methods for clinical decision making. Bioinformatics. 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:
2021-01-19



