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

Lab image with sequencing instrument and operator.
Photo: Mikael Wallerstedt

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

Photo of FFPE block being dissected.
Photo: Mikael Wallerstedt

Detection of resistance mutations

Photo of gloved hands holding 96-well plate.
Photo: Mikael Wallerstedt

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.

Photo of pipette tips above 96-well plate.
Photo: Mikael Wallerstedt
Last modified: 2022-01-04