NGI Uppsala

National facility, part of NGI

NGI Uppsala offers next generation sequencing (NGS) and genotyping services of high quality using the latest technologies to academic researchers in Sweden and abroad.

NGI Uppsala consists of two facilities, the SNP&SEQ Technology Platform and Uppsala Genome Center. Our aim is to provide researchers in Sweden and abroad cost effective, flexible and expedient service.

Our wide-range of Next Generation Sequencing (NGS) services include short-read technologies using Illumina and IonTorrent/Proton instruments and long-read technologies using PacBio instruments. Linked-read technology from 10xGenomics for genome-scale phasing (haplotyping) and single-cell RNA sequencing is also offered in combination with short-read Illumina sequencing. Thus our services cover a unique range of applications and solutions in the field of genomics.  We also undertake technically challenging projects that can lead to development of novel NGS protocols and applications. In addition, Sanger sequencing service is offered on a weekly basis.

For genotyping we assist projects on all scales, from 1 to million SNPs per sample in a few to thousands of samples. Multiplex short tandem repeat (STR) profiling for authentication of human cell lines and STR typing is also available.

DNA-methylation profiling is offered by array-based SNP genotyping and by whole-genome and targeted bisulphite sequencing using Illumina technology. Methylation profiling is also possible on native DNA using PacBio.

The SNP genotyping and sequencing using Illumina technologies are accredited by SWEDAC according to the ISO/IEC 17025 quality standard.

The best set up for a particular project depends on several factors e.g. research question, amount,quality and number of samples to be analyzed, as well as the requested amount of data. Read more about our services and technologies below, or contact us to discuss the most suitable method for your project.


Short read NGS with:  HiSeqX, HiSeq2500, MiSeq (Illumina)
IonS5XL and Ion Proton (ThermoFisher).
Long read NGS with:   PacBio RS II and PacBio Sequel.
Whole-genome genotyping with: iScan (Illumina).
(3.000-5 million SNPs)
Small to medium scale genotyping with: MiSeq (Illumina), MassARRAY (Agena BioScience),
Hidex Sense (Hidex Oy).
(1 to 1536 SNPs)
Array-based methylation profiling with:  iScan (Illumina).
Sanger Sequencing
STR profiling


Our services include:

  • Technical support for sequencing and genotyping projects design.
  • Quality control of samples before genotyping and sequencing.
  • Library preparation for sequencing with protocols optimal for each research project.
  • Quality control of sequencing and genotyping data.
  • Compilation of materials and methods for publications.
  • Bioinformatics support, including:
    • delivery of sequence reads with quality information via SNIC-UPPMAX.
    • alignment using BWA and variant calling for human WGS (Illumina sequencing).
    • de novo assembly of PacBio data with HGAP or FALCON assembler.



  • Whole genome sequencing for analysis of genetic variation
  • Whole exome sequencing for analysis of genetic variation
  • Whole genome de novo sequencing
  • Long-range haplotyping (phasing)
  • Whole-genome bisulphite sequencing for DNA methylation analysis
  • Reduced representation methylation sequencing
  • Targeted methylation sequencing
  • Whole transcriptome sequencing (RNA-seq)
  • Single-cell RNA-sequencing
  • Targeted sequencing of genomic regions (amplicon or hybrid capture sequencing)
  • Chromatin immunoprecipitation sequencing (ChIP-seq)
  • Sequencing of premade libraries


  • SNP genotyping on all scales in various organisms
  • Custom designed SNP panels
  • Copy number variation
  • Genome-wide DNA methylation analysis
  • Short tandem repeat (STR) profiling


  • 1X iScan (Illumina).
  • 1X MassARRAY (Agena Bioscience).
  • 1X Hidex Sense (Hidex Oy).
  • 5X HiSeq X sequencers (Illumina).
  • 2X HiSeq 2500 sequencers (Illumina).
  • 1X MiSeq sequencer (Illumina).
  • 1X Chromium system (10X Genomics).
  • 1X PacBio Sequel system (Pacific Biosciences).
  • 2X PacBio RS II systems (Pacific Biosciences).
  • 5X IonProton™ (Thermo Fisher).
  • 1X Ion S5XL (IonS5XL, Thermo Fisher).
  • 1X ABI 3730XL DNA Analyzer (Sanger sequencing, Thermo Fisher).
  • Multiple liquid handling robots for automated workflows.