Research and development at Clinical Genomics Uppsala
Research and development at Clinical Genomics Uppsala focuses on the implementation of new molecular methods in routine healthcare. Examples of research and/or development projects are described below.
Gene panel and exome sequencing
We have developed and implemented gene panel and exome sequencing for diagnosis of different types of inherited diseases and cancer into clinical routine.
Related publication: TAF1, Associated With Intellectual Disability in Humans, Is Essential for Embryogenesis and Regulates Neurodevelopmental Processes in Zebrafish - Gudmundsson et al, 2018
Sequencing of ffpe and liquid biopsy samples
We have developed methods for gene panel analysis of formalin-fixed paraffin-embedded (FFPE) and liquid biopsy samples from patients with solid tumors.
Related publication: HaloPlex Targeted Resequencing for Mutation Detection in Clinical Formalin-Fixed, Paraffin-Embedded Tumor Samples - Moens et al 2015
Detection of resistance mutations
In collaboration with Uppsala Genome Center, we have developed a PacBio-based diagnostic test for detection of mutations in chronic myeloid leukemia (CLL) that confer resistance to treatment with tyrosine kinase inhibitors.
Related publication: Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing - Cavelier et al, 2015
Ultra-sensitive detection of MRD
An ongoing project aims at evaluating the potential of digital droplet PCR for sensitive detection of minimal residual disease (MRD) in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) during or after treatment. We also develop applications for ultra-sensitive detection using the SafeLock technology together with Prof. Ulf Landegren.
A list of all publications to which Clinical Genomics Uppsala has contributed is available in the SciLifeLab publication database.