Comparison of genome sequencing and clinical genotyping for pharmacogenes

Abstract excerpt

We compared whole exome sequencing (WES, n = 176 patients) and whole genome sequencing (WGS, n = 68) and clinical genotyping (DMET array-based approach) for interrogating 13 genes with Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines. We focused on 127 CPIC important variants: 103 single nucleotide variations (SNV), 21 insertion/deletions (Indel), HLA-B alleles, and two CYP2D6 structural...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Drug Transport and Resistance Mechanisms
• Share to Pharmacogenetics and Drug Metabolism
• Share to Renal Transplantation Outcomes and Treatments