Document Type
Article
Version Deposited
Published Version
Publication Date
1-26-2024
Publication Title
BMC Genomics
DOI
10.1186/s12864-024-09994-6
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.
Recommended Citation
Gharani, N., Calendo, G., Kusic, D. et al. Star allele search: a pharmacogenetic annotation database and user-friendly search tool of publicly available 1000 Genomes Project biospecimens. BMC Genomics 25, 116 (2024). https://doi.org/10.1186/s12864-024-09994-6
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
Comments
Copyright 2024 The Authors. Published by BMC, part of Springer Nature.
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