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.

Services

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

Applications

• 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.

Equipment

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