NGI Uppsala (Uppsala Genome Center)

National facility


Uppsala Genome Center is a part of the genomics platform at SciLifeLab in Uppsala and also is a node of National Genomics Infrastructure. Our aim is to find cost effective, flexible and expedient solutions for all types of services we provide. Unlike other core facilities in Sweden, we offer Next Generation Sequencing services on IonTorrent, PacBio and SOLiD systems. This allows us to provide our customers with a wide range of unique applications and solutions in field of genomics. In addition we offer weekly Sanger sequencing and genotyping service for multiple applications. Being a non-commercial university-based core facility allows us to undertake even scientifically challenging projects that might lead to development of novel protocols and applications using NGS technology.


  • A) “Third” Generation Sequencing. Single molecule real-time sequencing using PacBio RS II system provides the highest consensus accuracy and longest read lengths of any available sequencing technology.
  • B) Next Generation Sequencing. High throughput sequencing based on the IonTorrent™ and SOLiD™ technologies.
  • C) Sanger sequencing. Both as an ordinary weekly service, as well as a service within larger, tailor-made projects.
  • D) Genotyping Service. Multiplex STR profiling for authentication of human cell lines.



  • A) 2X PacBio RS II system (Pacific Biosiciences).
  • B) 6X IonProton™ (Thermo Fisher).
  • C) 2X IonPGM™ (Thermo Fisher).
  • D) 1X SOLiD 5500 WildFire (Thermo Fisher).
  • E) 2X ABI 3730XL DNA Analyzer (Thermo Fisher).


  • Whole genome re-sequencing
  • Whole transcriptome sequencing
  • Whole exome sequencing
  • De novo sequencing
  • Targeted re-sequencing (of selected genes/regions of interest)
  • Amplicon sequencing
  • Small RNA (miRNA) sequencing
  • ChIP sequencing


"Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing"

"CanvasDB: a local database infrastructure for analysis of targeted- and whole genome re-sequencing projects"

"Complete Genome Sequence of Borrelia afzelii K78 and Comparative Genome Analysis"

"Fluctuating expression of microRNAs in adenovirus infected cells"