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bioRxiv · 10.1101/2023.07.27.550362

Star allele search: a pharmacogenetic annotation database and user-friendly search tool of publicly available 1000 Genomes Project biospecimens

Gharani, N.·Calendo, G.·Kusic, D.·Madzo, J.·Scheinfeldt, L.
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Abstract

Here we describe a new public pharmacogenetic (PGx) annotation database of a large (n=3202) and diverse biospecimen collection of 1000 Genomes Project cell lines and DNAs. The database is searchable with a user friendly, web-based tool (www.coriell.org/StarAllele/Search). This resource leverages existing whole genome sequencing data and PharmVar annotations to characterize *alleles for each biospecimen in the collection. This new tool is designed to facilitate in vitro functional characterization of *allele haplotypes and diplotypes as well as support clinical PGx assay development, validation, and implementation.

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Gharani, N., Calendo, G., Kusic, D., Madzo, J., Scheinfeldt, L.. 2023-07-29. Star allele search: a pharmacogenetic annotation database and user-friendly search tool of publicly available 1000 Genomes Project biospecimens. https://doi.org/10.1101/2023.07.27.550362

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