Project

Nanopore sequencing of complete pharmacogenes after CRISPR/Cas9 enrichment in tamoxifen and clopidogrel patients allowing enhanced haplotyping and continuous scale machine learning efficacy prediction.

Duration
01 October 2021 → Ongoing
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Medical and health sciences
    • Pharmogenetics and -genomics
Keywords
Pharmacogenetics haplotypng nanopore sequencing machine learning
 
Project description

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.