• Hoffmann Per

CV

I have been working in the field of genomics since 2005, when the first microarrays for GWAS became available. Since then, my work has contributed to the identification of new genes and loci in numerous diseases and traits, such as dyslexia, bipolar disorder, schizophrenia, cleft lip and palate, and psoriasis.

The current focus of my work is on the application and further development of new genomic technologies for researching the genetic basis of multifactorial diseases, as well as their implementation in routine application.

 

 

ABSTRACT

Advancing pharmacogenetics testing using long-read sequencing and ONT’s adaptive sampling  

 

Genotyping platforms such as TaqMan OpenArray and Illumina microarrays with enhanced PGx content enable cost-effective pharmacogenomic (PGx) testing but are restricted to predefined variants. They often miss rare alleles, structural rearrangements, and complex haplotypes, particularly in genes like CYP2D6, leading to incomplete PGx profiles and potential misclassification of drug metabolizer status. Long-read sequencing with adaptive sampling (AS) overcomes these limitations by directly resolving full gene structures, haplotypes, and copy number changes while selectively enriching pharmacogenes in real time without capture or amplification.

 

We established long-read sequencing with AS for 188 pharmacogenes on the PromethION 24. Downstream processing was conducted using the wf-pgx workflow in EPI2ME, which supports pharmacogene-specific variant calling and star allele assignment, allowing comparison with conventional results obtained from genotyping platforms.

 

In this talk, results of a pilot study including 25 samples will be presented to demonstrate how this approach overcomes key limitations of qPCR- and array-based genotyping.