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Article

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

The Journal of molecular diagnostics : JMD - 1 Jun 2022

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

Abstract excerpt

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 validity of the computational tool, Aldy, in calling pharmacogenomics-relevant genotypes from exome sequencing data for 13...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35452844
DOI: 10.1016/j.jmoldx.2022.03.008
PMCID: PMC9227988

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