Tonight I watched the London Calling 2023 session entitled “Advancing targeted haplotyping in pharmacogenomics using adaptive sampling.” Koen Deserranno from Ghent University in Belgium spoke about their research. They are a pharmacist by training and are interested in pharmacogenomics (PGx): personalization of drug therapy based on genomic sequences of the individual. Deserranno spoke about how pharmacogenomics currently uses short read sequencing and variant identification by PCR. However, for some variants, the structural variants are complex. Deserranno noted that current guidelines are based on “star alleles” which depend on the assignment of haplotype information. Deserranno and team designed an enrichment panel of 1056 pharmacogenomics genes and took advantage of Oxford Nanopore Technologies (ONT) adaptive sampling. They presented data on the use of R9.4.1 flow cells. With R10.4.1 there was a drop in throughput which resulted in only ~90% accuracy, affecting the recall of variants. Thus, they developed a pipeline to sequence regions of interest. Deserranno believes that adaptive sampling is a powerful tool and may allow multiplexing of samples. This panel will be very useful and also help improve knowledge about the balance of throughput and adaptive sampling. I wonder how they developed their panel and the work involved in preparing libraries…
