Abstract:
:Recent advances in next-generation sequencing technology have led to the production of an unprecedented volume of genomic data, thus further advancing our understanding of the role of genetic variation in clinical pharmacogenomics. In the present study, we used whole exome sequencing data from 50,726 participants, as derived from the DiscovEHR cohort, to identify pharmacogenomic variants of potential clinical relevance, according to their occurrence within the PharmGKB database. We further assessed the distribution of the identified rare and common pharmacogenomics variants amongst different GnomAD subpopulations. Overall, our findings show that the use of publicly available sequence data, such as the DiscovEHR dataset and GnomAD, provides an opportunity for a deeper understanding of genetic variation in pharmacogenes with direct implications in clinical pharmacogenomics.
journal_name
Genes (Basel)journal_title
Genesauthors
Pandi MT,Williams MS,van der Spek P,Koromina M,Patrinos GPdoi
10.3390/genes11050561subject
Has Abstractpub_date
2020-05-18 00:00:00issue
5issn
2073-4425pii
genes11050561journal_volume
11pub_type
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