e-Article
Star allele search: a pharmacogenetic annotation database and user-friendly search tool of publicly available 1000 Genomes Project biospecimens.
Document Type
Article
Author
Source
Subject
*DATABASE searching
*WHOLE genome sequencing
*GENOMES
*ALLELES
*DATABASES
*NUCLEOTIDE sequencing
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*
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*
Language
ISSN
1471-2164
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. [ABSTRACT FROM AUTHOR]