Research and development at Clinical Genomics Uppsala focuses on the implementation of new molecular methods in routine healthcare. Examples of research and development projects are described below.

Staff working with sequencing instrument

Photo: Mikael Wallerstedt

Gene panels to whole genome sequencing

We have developed and implemented tests ranging from gene panels to whole genome sequencing for diagnosis of different types of inherited diseases and cancer into clinical routine.

Related publications

Gudmundsson S, Wilbe M, Filipek-Górniok B, Molin AM, Ekvall S, Johansson J, Allalou A, Gylje H, Kalscheuer VM, Ledin J, Annerén G, Bondeson ML. TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish. Sci Rep. 2019

Baliakas P, Munters AR, Kämpe A, Tesi B, Bondeson ML, Ladenvall C, Eriksson D. Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer. J Med Genet. 2024

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, for example the GMS560 panel developed in collaboration with Genomic Medicine Sweden.

Related publication

Moens LN, Falk-Sörqvist E, Ljungström V, Mattsson J, Sundström M, La Fleur L, Mathot L, Micke P, Nilsson M, Botling J. HaloPlex Targeted Resequencing for Mutation Detection in Clinical Formalin-Fixed, Paraffin-Embedded Tumor Samples. J Mol Diagn. 2015

Staff working with sequencing instrument

Photo: Mikael Wallerstedt

Staff working with sequencing instrument

Photo: Mikael Wallerstedt

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 superRCA technology together with Prof. Ulf Landegren.

Related publication

Chen L, Eriksson A, Weström S, Pandzic T, Lehmann S, Cavelier L, Landegren U. Ultra-sensitive monitoring of leukemia patients using superRCA mutation detection assays. Nat Commun. 2022

Long-read sequencing

We utilize both targeted and whole genome long-read sequencing approaches to improve genomic analyses that pose challenges to conventional technologies, in close collaboration with Uppsala Genome Center. Ongoing projects aim at various new clinical applications in hematology and rare disease.

Complete list of publications

A list of all publications to which Clinical Genomics Uppsala has contributed is available in the SciLifeLab publication database.