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 we have access to additional instruments, including e.g. NovaSeq 6000 (Illumina) and PacBio instruments.

Short-read sequencing

  • NovaSeq X (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)
  • MiniSeq (applications: small gene panels, few samples, bacterial/viral genomes

For more information, visit Illumina's website.

Sequencing equipment

Photo: Mikael Wallerstedt

Long-read sequencing

  • Nanopore GridION (applications: small gene panels, bacterial/ viral genomes, fast sequencing, metagenomics)
  • Nanopore P2 Solo (applications: human WGS, adaptive sampling/targeted sequencing)

For more information, visit Oxford Nanopore Technologies' 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.

Sequencing equipment

Photo: Nanostring Technologies

Bio-Rad QX200™ Droplet Digital™​ PCR system

  • Droplet digital PCR analysis in 96-well plates
  • Applications: Sensitive detection of specific mutations

Read more about Droplet Digital PCR on Bio-Rad's website.

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.

Sequencing equipment

Photo: Mission Bio