Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions.

ABSTRACT:

Purpose

Biomedical databases combining electronic medical records and phenotypic and genomic data constitute a powerful resource for the personalization of treatment. To leverage the wealth of information provided, algorithms are required that systematically translate the contained information into treatment recommendations based on existing genotype-phenotype associations.

Methods

We developed and tested algorithms for translation of preexisting genotype data of over 44,000 participants of the Estonian biobank into pharmacogenetic recommendations. We compared the results obtained by genome sequencing, exome sequencing, and genotyping using microarrays, and evaluated the impact of pharmacogenetic reporting based on drug prescription statistics in the Nordic countries and Est

SUBMITTER: Reisberg S 

PROVIDER: S-EPMC6752278 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature