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Summary-level pharmacogenomic datasets for 12 African populations: per-population allele frequencies, 174 highly differentiated variants, novel-variant catalogue, star-allele diplotypes and HLA typing

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Zenodo2026-06-23 更新2026-06-28 收录
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Summary-level, de-identified pharmacogenomic data underlying Mbiyavanga et al., "Whole-exome sequencing of 12 African populations reveals up to 4.9-fold variation in predicted drug toxicity risk for essential medicines." Derived from whole-exome sequencing of 127 individuals from 12 populations across Kenya, Tanzania, Nigeria, South Africa and Zimbabwe, jointly called with DeepVariant and GLnexus (GRCh38). Contents: per-population allele frequencies for clinically actionable pharmacogenomic variants (Tables 5/8); 174 highly differentiated variants (Supplementary Table S6); the novel-variant catalogue (17,528 exome-wide; 471 pharmacogene allele-level); predicted metabolizer phenotypes; high-confidence deleterious novel variants (Supplementary Table S4); and the supplementary information PDF. See MANIFEST.md for file-level provenance. Raw sequence data is under controlled access at the European Genome-phenome Archive (accession EGAS00001008456). Licensed CC-BY 4.0.

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Zenodo
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2026-06-23
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