Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes

Abstract excerpt

More than 1,100 genetic loci have been correlated with drug response outcomes but disproportionately few have been translated into clinical practice. One explanation for the low rate of clinical implementation is that the majority of associated variants may be in linkage disequilibrium (LD) with the causal variants, which are often elusive. This study aims to identify and characterize likely causal variants within...

Topics

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• Genetic Variation
• Genome, Human
• High-Throughput Nucleotide Sequencing
• Human Genome Project
• Linkage Disequilibrium
• Pharmacogenetics
• Pharmacogenomic Variants
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

21568c0b-a308-58eb-be1f-17ab3a63210e

DOI

10.1101/368225