Published April 11, 2025 | Version v2
Dataset Open

PRP: Pathogenic Risk Prediction for Rare Nonsynonymous Single Nucleotide Variants

  • 1. EDMO icon Seoul National University

Description

This repository contains the training dataset and three independent test datasets used in the study "PRP:Pathogenic Risk Prediction for Rare Nonsynonymous Single Nucleotide Variants."

Each file includes the following columns:

  • chr: chromosome

  • pos: genomic position

  • alRef: Reference allele

  • alAlt: Alternative allele

  • aaRef: Reference amino acid

  • aaAlt: Altered amino acid

  • clnSig: Clinical significance of the variant (pathogenic=1, benign=0)

Files

testset.clingen.txt

Files (1.5 MB)

Name Size Download all
md5:9936855fb87db07e3d6b976e4170f3ac
6.2 kB Preview Download
md5:06b7b1e53371f29356a5eb5d9bfbab70
106.7 kB Preview Download
md5:0f3edd3c5c3302ee70e1fe86c782ca31
284.6 kB Preview Download
md5:0ee3bd8d8ce53274ef70a486c6eb3e9e
1.1 MB Preview Download

Additional details