%0 Journal Article %J Pharmacogenet Genomics %D 2016 %T PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation. %A Gordon, Adam S %A Fulton, Robert S %A Xiang Qin %A Mardis, Elaine R %A Nickerson, Deborah A %A Steven E Scherer %X

OBJECTIVES: Although the costs associated with whole-genome and whole-exome next-generation sequencing continue to decline, they remain prohibitively expensive for large-scale studies of genetic variation. As an alternative, custom-target sequencing has become a common methodology on the basis of its favorable balance between cost, throughput, and deep coverage.

METHODS: We have developed PGRNseq, a custom-capture panel of 84 genes with associations to pharmacogenetic phenotypes, as a tool to explore the relationship between drug response and genetic variation, both common and rare. We utilized a set of 32 diverse HapMap trios and two clinical cohorts to assess platform performance, accuracy, and ability to discover novel variation.

RESULTS: We found that PGRNseq generates ultra-deep coverage data (mean=496x) that are over 99.8% concordant with orthogonal datasets. In addition, in our testing sets, PGRNseq identified many novel, rare variants of interest, underscoring its value in both research and clinical settings.

CONCLUSION: PGRNseq is an ideal platform for carrying out sequencing-based analyses of pharmacogenetic variation in large cohorts. In addition, the high accuracy associated with genotypes from PGRNseq highlight its utility as a clinical test.

%B Pharmacogenet Genomics %V 26 %P 161-168 %8 2016 Apr %G eng %N 4 %1 https://www.ncbi.nlm.nih.gov/pubmed/26736087?dopt=Abstract %R 10.1097/FPC.0000000000000202