Data Access Committee LUMC-KFT pharmacogenetics

Jesse J. Swen
j.j.swen@lumc.nl

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Dataset ID	Description	Technology	Samples
EGAD00001005972	Dataset contains CYP2D6 sequencing data of 566 individuals who used tamoxifen as adjuvant breast cancer therapy. Phenotype data consists of the ratio between the metabolites endoxifen and desmethyltamoxifen (Metabolic ratio (MR)) as a proxy for CYP2D6 enzyme activity. Each sample is linked to one bam-file containing the CYP2D6 sequence.	PacBio RS II	2
EGAD00001009883	We have assessed the added value of long-read sequencing for PGx focusing on the clinically important and highly polymorphic CYP2C19 gene within 48 samples.	PacBio RS II	1