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Medical and health sciences
- Pharmogenetics and -genomics
Pharmacogenetics (PGx) studies how genes influence individual response to drug therapies. Current massively parallel short-read DNA sequencing (SR-MPS) technologies provide limited haplotype information. We want to alleviate this by developing full-gene long-read MPS on PGx genes using an amplification-free CRISPR/Cas9 target enrichment method. Completely-phased genotype data and metadata from 2 cohorts will be used to train a machine learning model.Pharmacogenetics (PGx) studies how genes influence individual response to drug therapies. Current massively parallel short-read DNA sequencing (SR-MPS) technologies provide limited haplotype information. We want to alleviate this by developing full-gene long-read MPS on PGx genes using an amplification-free CRISPR/Cas9 target enrichment method. Completely-phased genotype data and metadata from 2 cohorts will be used to train a machine learning model.