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| Main Authors: | , |
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| Format: | Recurso digital |
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Zenodo
2026
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| Online Access: | https://doi.org/10.5281/zenodo.18962852 |
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Table of Contents:
- <p>Data repository for Protein Feature Enrichment Score (PFES). </p> <ul> <li><a href="https://zenodo.org/api/records/18962703/draft/files/gene_fraction_PFES_category.csv/content" target="_blank" rel="noopener noreferrer">gene_fraction_PFES_category.csv</a></li> </ul> <p>A list of genes annotated with the fraction of missense variants partitioned into PF-Enriched, PF-Neutral, and PF-Depleted among all possible amino acid substitutions</p> <ul> <li> <ul> <li>Gene: HGNC gene symbol</li> <li>frac_PF_Enriched: the fraction of PF-Enriched missense variants among all possible AA substitutions</li> <li>frac_PF_Neutral: the fraction of PF-Neutral missense variants among all possible AA substitutions</li> <li>frac_PF_Depleted: the fraction of PF-Depleted missense variants among all possible AA substitutions</li> <li>Chromosome: Chromosome location (23: X, 24: Y, 25: MT) </li> <li>GenCC: whether the gene is listed in GenCC (https://thegencc.org/) with <em>Definitive</em> or <em>Strong</em> classification for the gene-disease relationship</li> </ul> </li> </ul> <p> </p>