Article

Nanopore sequencing of the pharmacogene CYP2D6 allows simultaneous haplotyping and detection of duplications

2019-03-13

Abstract excerpt

<h4>Background</h4> The accurate genotyping of CYP2D6 is hindered by the very polymorphic nature of the gene, high homology with its pseudogene CYP2D7 , and the occurrence of structural variations. Long read sequencing offers the promise of overcoming some of these challenges, along with the advantage of straightforward variant phasing. We have established methods for sequencing and analysis of DNA amplicons co...

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Literature Corpus work: c3771bdf-530c-536e-a1cf-5e10c8c61acb
DOI: 10.1101/576280

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