Clinical Genomics Uppsala

Infrastructure unit

Recent user publications

The publications in this database are the result of research conducted at the units of SciLifeLab – both in user projects and technology development.


Ulf Gyllensten, Platform Scientific Director
Malin Melin, Head of Unit

Marie-Louise Bondeson, WP leader
Johan Botling, WP leader
Peter Hollander, WP leader
Rene Kaden, WP leader
Claes Ladenvall, WP leader
Tatjana Pandzic, WP leader

Jonas Almlöf, Bioinformatician
Rose-Marie Amini, Physician
Eva Berglund, Project coordinator
Padraic Corcoran, Bioinformatician
Nina Hollfelder, Bioinformatician
Ida Höijer, Molecular biologist, Project coordinator
Britt-Inger Jonsson, Biomedical scientist
Joakim Klar, Geneticist
Gilbert Lauter, Molecular biologist
Sara Löfgren, Molecular biologist
Johanna Manninen, Research engineer
Lotte Moens, Molecular biologist
John Morrison, System administrator
Arielle Munters, Bioinformatician
Helena Nord, Molecular biologist
Jessika Nordin, Bioinformatician
Cecilia Persson, Biomedical scientist
Patrik Smeds, Bioinformatician
Simone Weström, Molecular biologist

Clinical Genomics Uppsala

Clinical Genomics Uppsala is jointly set up by Uppsala University, Uppsala University Hospital and SciLifeLab with the aim to catalyze the transition of novel research findings into molecular diagnostics for clinical use. The unit is fully integrated within the Uppsala University Hospital and has extensive experience in development and implementation of state-of-the-art next-generation sequencing (NGS) technology in routine diagnostics. We take on research and development projects with a clear translational profile. With our team of associated geneticists, bioinformaticians and medical doctors, we can deliver clinical assessments of the detected variants with the aim to truly provide bench-to-bedside service.


Clinical Genomics Uppsala provides services within next generation sequencing (NGS) and other molecular technologies. We take on projects that include development of methods for clinical implementation or translational research with strong clinical utility.

Our services include:

  • Support with project design
  • Tissue processing of solid tumors
  • Quality control of samples prior to analysis
  • Sequencing library preparation
  • NGS and other molecular technologies
  • Bioinformatics support
  • Clinical interpretation of variants


  • Method development for translational research or diagnostic purposes
  • Genome-wide, exome and targeted DNA and RNA sequencing
  • Fusion gene detection
  • Gene expression analysis with NanoString
  • Sensitive mutation detection with Digital PCR
  • Single-cell multi-comics with Mission Bio

Current focus areas are solid tumors, hematological malignancies, inherited diseases and microbiology.


  • Illumina NextSeq
  • Illumina MiSeq
  • Illumina MiniSeq
  • NanoString
  • Bio-Rad Digital PCR
  • Mission Bio Tapestri
  • Oxford Nanopore Technologies GridION
  • Oxford Nanopore Technologies MinION

Mail address

Uppsala University
Clinical Genomics
751 85 Uppsala

Visitor address / Deliveries

Uppsala University
Clinical Genomics
Dag Hammarskjölds väg 20, 
751 85 Uppsala

Last updated: 2023-01-19

Content Responsible: Scilifelab Administration()