Equipment
Major equipment at Clinical Genomics Uppsala and examples of applications for each instrument are listed below.
Through collaboration with the SNP&SEQ Technology Platform and Uppsala Genome Center at the National Genomics Infrastructure we have access to additional instruments, including e.g. NovaSeq 6000 (Illumina) and PacBio instruments.
Short-read sequencing
- NovaSeq X plus (applications: whole genome sequencing, broad gene panels)
- NextSeq 2000 (applications: whole genome sequencing, broad gene panels)
- NextSeq 550 (applications: exomes, gene panels)
- MiSeq (applications: small gene panels, bacterial/viral genomes)
For more information, visit Illumina's website.

Photo: Mikael Wallerstedt
Long-read sequencing
- GridION (applications: small gene panels, bacterial/ viral genomes, fast sequencing, metagenomics)
- P2 Solo (applications: human WGS, adaptive sampling/targeted sequencing)
- Revio (applications: human WGS and targeted sequencing)
For more information, visit Oxford Nanopore Technologies' website or Pacific Biosciences’ website.

Photo: Mikael Wallerstedt
Droplet digital PCR
- QX200 (applications: sensitive detection of specific mutations)
- QX600 (applications: sensitive multiplex mutation detection)
For more information, visit Bio-Rad's website.
NanoString nCounter® FLEX
- Gene expression panels of up to 770 genes
- 12 samples analyzed per run
- Applications: Gene expression analyses
For more information, visit Nanostring's website.

Photo: Nanostring Technologies
Mission Bio Tapestri® platform
- Pre-designed or custom DNA and antibody panels
- Applications: Simultaneous detection of SNVs, CNVs and cell surface proteins in single cells
For more information, visit Mission Bio’s website.

Photo: Mission Bio