遇见数据集

CYP2C19 Star-Allele Assignments, Diplotypes, and Predicted Clopidogrel Metabolizer Phenotypes in a Palestinian Whole-Exome Sequencing Cohort

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Zenodo2026-06-03 更新2026-06-05 收录
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De-identified dataset accompanying the article "Distribution of CYP2C19 Alleles and Predicted Clopidogrel Response Phenotypes in a Palestinian Cohort: Implications for Personalized Antiplatelet Therapy" (Salhi et al., BMC Pharmacology and Toxicology, under review). The archive contains CYP2C19 star-allele assignments for 250 unique patients who underwent clinical whole-exome sequencing at Medicare (Ramallah, Palestine) between 2024 and 2026. Star-allele calls (*1, *2, *3, *17) were extracted from the variant-interpretation output of the Genomize SEQ clinical analysis platform after processing of MGI/DNBSEQ whole-exome sequencing data aligned to GRCh37/hg19. Diplotypes and predicted clopidogrel metabolizer phenotypes were assigned according to Clinical Pharmacogenetics Implementation Consortium (CPIC) definitions, with *2/*17 classified as intermediate metabolizer because the loss-of-function effect of *2 dominates over the increased-function *17. Files included:- per_sample_CYP2C19_genotypes.csv — one row per de-identified sample (N = 250)- table1_diplotype_distribution.csv — aggregate diplotype counts and percentages- table2_phenotype_distribution.csv — predicted metabolizer phenotype distribution- allele_frequencies.csv — allele counts with Wilson 95% CIs- README.md — full dataset documentation Sample identifiers (PAL-001 through PAL-250) are arbitrary anonymous codes not linkable to any direct or indirect identifier. The raw whole-exome sequencing reads are not deposited: they were generated for diagnostic workup of unrelated suspected genetic disease and fall outside the participant consent framework for public release. Ethics: approved by the Medicare Institutional Review Board (approval 2026-NGS-014); study conducted in accordance with the Declaration of Helsinki.

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Zenodo
创建时间:
2026-06-03
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