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BMC Genomics ; 25(1): 116, 2024 Jan 26.
Article in English | MEDLINE | ID: mdl-38279110

ABSTRACT

Here we describe a new public pharmacogenetic (PGx) annotation database of a large (n = 3,202) 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.


Subject(s)
Databases, Genetic , Pharmacogenetics , Alleles , Haplotypes
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