International Journal of Legal Medicine https://doi.org/10.1007/s00414-018-1874-9 LETTER TO THE EDITOR Exploring the 1000 Genomes Project haplotype reporting for the CYP2D6 pharmacogene 1,2 1,2 3 4 1,2 Frank R. Wendt & August E. Woerner & Antti Sajantila & Rodrigo S. Moura-Neto & Bruce Budowle Received: 12 March 2018 /Accepted: 28 May 2018 Springer-Verlag GmbH Germany, part of Springer Nature 2018 The Gaedigk et al. article BA perspective by PharmVar: Are as to reflect most recent submitted findings. Additionally, we the hundreds of CYP2D6 haplotypes predicted by Wendt and encourage PharmVar, its affiliates, and other pharmacogenomics colleagues real?^ describes shortcomings of the 2017 Wendt researchers to release full-gene information as it becomes avail- et al. article BFull-gene haplotypes refine CYP2D6 able, rather than only those sites relevant to the PharmVar no- metabolizer phenotype inferences^ . To summarize, they menclature table(s) or the repository of knowledge for their re- discuss (1) the lack of submission of novel variants to www. spective gene(s) of interest. In doing so, the initiative described PharmVar.org; (2) inaccurate activity score reporting, namely by Gaedigk and colleagues will continue to thrive. for those haplotypes containing the 843T>G SNP; (3) use of The Wendt et al. paper was intended
International Journal of Legal Medicine – Springer Journals
Published: Jun 2, 2018
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