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

被引:0
|
作者
N. Gharani
G. Calendo
D. Kusic
J. Madzo
L. Scheinfeldt
机构
[1] Coriell Institute for Medical Research,
[2] Gharani Consulting Limited,undefined
[3] Cooper Medical School of Rowan University,undefined
来源
BMC Genomics | / 25卷
关键词
Pharmacogenetic; Pharmacogenomic; Reference material;
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摘要
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.
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