Article
Variant discovery using next-generation sequencing and its future role in pharmacogenetics.
Pharmacogenomics - 1 May 2020
Russell Laura E, Schwarz Ute I
Abstract excerpt
Next-generation sequencing (NGS) has enabled the discovery of a multitude of novel and mostly rare variants in pharmacogenes that may alter a patient's therapeutic response to drugs. In addition to single nucleotide variants, structural variation affecting the number of copies of whole genes or parts of genes can be detected. While current guidelines concerning clinical implementation mostly act upon...
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