Koen Deserranno from Ghent University in Belgium presented a lightning talk at London Calling 2023. The title was “Advancing targeted haplotyping in pharmacogenomics using adaptive sampling.” For example, they explained that pharmacogenomics studies the genetic impact on drug efficiency. There is a need for long-read sequencing for some pharco genes. The current pharmacogenomics information, Deserranno explained, is based on star alleles. Thus, phasing is needed. Deserranno and colleagues created a panel and enrichment protocol. They then benchmarked it. While recall of variants was efficient, Deserranno was interested in phased structural variant detection and star allele. Deserranno explained that “adaptive sampling on PromethION is a promising tool for advancing the field of PGx” (pharmacogenomics).
