遇见数据集

Precomputed PharmGScore Variant Deleteriousness Scores for Pharmacogenomic Analysis

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Zenodo2025-07-15 更新2026-05-26 收录
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# README: PharmGScore Dataset **Title**: Precomputed PharmGScore Variant Deleteriousness Scores for Pharmacogenomic Analysis **Associated Manuscript**: "Computational variant predictors for pharmacogenomics: from evaluation of single alleles to assessment of adverse drug reactions to antidepressants"_ --- ## Description This dataset provides **precomputed PharmGScore values** for all possible single-nucleotide variants (SNVs) located in human protein-coding exons ±60 base pairs, across selected pharmacogenes. PharmGScore is a pharmacogenomics-specific variant scoring metric developed by aggregating multiple general-purpose predictors, designed to capture the potential functional impact of both known and novel variants in pharmacogenes. These scores can be used to evaluate variant deleteriousness in sequencing studies (e.g., WES) and are intended as a scalable alternative or complement to star allele classification in pharmacogenomics. --- ## PharmGScore Calculation Summary PharmGScore is an **ensemble score** derived from the following tools:- CADD- FATHMM-XF- MutationAssessor- PROVEAN

# 自述文件:PharmGScore 数据集 **标题**:用于药物基因组学(pharmacogenomics)分析的预计算PharmGScore变异有害性评分数据集 **关联手稿**:《用于药物基因组学的计算变异预测器:从单等位基因评估到抗抑郁药药物不良反应的评估》 --- ## 描述 本数据集为选定的药物基因组学相关基因中,位于人类蛋白质编码外显子±60碱基对范围内的所有潜在单核苷酸变异(Single-Nucleotide Variant,SNV)提供预计算的PharmGScore值。PharmGScore是一款专为药物基因组学开发的变异评分指标,通过整合多款通用型预测工具构建而成,旨在捕捉药物基因组学基因中已知及新发变异的潜在功能影响。 此类评分可应用于测序研究(如全外显子组测序(Whole Exome Sequencing,WES))中的变异有害性评估,旨在作为药物基因组学领域星型等位基因分类方案的可扩展替代工具或补充手段。 --- ## PharmGScore 计算概述 PharmGScore是一款集成评分(ensemble score),由以下工具整合得到: - CADD - FATHMM-XF - MutationAssessor - PROVEAN

提供机构:
pgxlab
创建时间:
2025-07-15
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