Analytical Validation of a Computational Method for Pharmacogenetic Genotyping from Clinical Whole Exome Sequencing

• Published in: The Journal of molecular diagnostics : JMD Vol. 24; no. 6; pp. 576 - 585
• Main Authors: Ly, Reynold C., Shugg, Tyler, Ratcliff, Ryan, Osei, Wilberforce, Lynnes, Ty C., Pratt, Victoria M., Schneider, Bryan P., Radovich, Milan, Bray, Steven M., Salisbury, Benjamin A., Parikh, Baiju, Sahinalp, S. Cenk, Numanagić, Ibrahim, Skaar, Todd C.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.06.2022; American Society for Investigative Pathology
• Subjects: Cytochrome P-450 CYP2D6 - genetics; Cytochrome P-450 CYP3A - genetics; DNA Copy Number Variations - genetics; Exome Sequencing; Genotype; High-Throughput Nucleotide Sequencing; Humans; Liver-Specific Organic Anion Transporter 1 - genetics; Pharmacogenetics - methods; Technical Advance

Germline whole exome sequencing from molecular tumor boards has the potential to be repurposed to support clinical pharmacogenomics. However, accurately calling pharmacogenomics-relevant genotypes from exome sequencing data remains challenging. Accordingly, this study assessed the analytical validit...