Advancing targeted haplotyping in pharmacogenomics using adaptive sampling

Pharmacogenomics (PGx) encompasses the personalisation of a patient’s drug therapy based on its genomic blueprint. However, current microarrays and short-read sequencing genotyping techniques are limited in the information they provide as they are unsuccessful to identify complex structural variants. In addition, they fail to perform unambiguous haplotype assignment, critical for PGx star-allele classification. We applied adaptive sampling on PromethION to characterize a panel of 1056 relevant PGx genes extracted from the Pharmacogenomics Knowledge Base (PharmGKB). We characterized the Genome in a Bottle HG001, HG002 and HG005 samples, and assessed variant calling performance and phased structural variant identification.

Check out Koen Deserranno's London Calling talk on this research here.

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