Briefly about Genomics

Genomics explores DNA and RNA to drive advancements in life sciences, including biology, medicine, biotechnology, and archaeology. At SciLifeLab, we offer cutting-edge high-throughput technologies to support genomic studies, and we provide comprehensive support for translational and clinical research. The National Genomics Infrastructure (NGI) offers a complete spectrum of state-of-the-art next-generation sequencing and SNP genotyping technologies tailored to any scale. Additionally, we provide optimized support in laboratory processing and computational analysis of historical and ancient DNA samples. Moreover, Clinical Genomics offers tailored end-to-end support for translational and clinical research projects, including technology development towards clinical applications. Our services extend to Bioinformatics support and include custom data analysis and development of bioinformatic pipelines for clinical studies.

Contact persons

For general inquiries about genomics services at SciLifeLab, please contact Magnus and Marcela.

Magnus Lundgren & Marcela Davila
Uppsala University & University of Gothenburg
magnus.lundgren@scilifelab.uu.se, marcela.davila@gu.se

What we offer at SciLifeLab

Genomics Services for Research

The National Genomics Infrastructure (NGI) is a national infrastructure for genomics supporting researchers from all of Sweden. Our mission is to assist the scientific community with modern services and key expertiese in life science research.

NGI offers a complete spectrum of state-of-the-art technologies in next-generation sequencing and genotyping, along with bioinformatic support. Services cover project design and analysis tailored to any scale, from SNPs to whole genomes, from single-cells to tissues.

Key applications:

  • Genomics (WGS/WES)
  • Transcriptomics
  • Epigenomics
  • De novo sequencing
  • Single-cell and spatial transcriptomics
  • Environmental sequencing
  • Proteomics with NGS readout
  • Genotyping
  • Associated bioinformatic support

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Genomics for Translational Research into Clinical Use

​The synergy of technological and clinical expertise drives progress towards clinical applications. The Clinical Genomics platform offers expertise, method development and end-to-end services, facilitating translational research and precision diagnostics.

Access to specialized equipment enables us to provide services within next generation sequencing (NGS) and other molecular technologies, including data generation and development of methods for clinical implementation or translational research. We are experts on real-time clinical samples and can provide rapid turn-around times for prospective translational and clinical studies.

We offer

  • Consultation and support with experimental design
  • Sample management
  • QC of samples for various analyses
  • Sequencing and other molecular analyses
  • Bioinformatic analyses
  • Clinical interpretation of genetic variants
  • Training and education

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Analysis of Ancient DNA

The Ancient DNA unit provides state-of-the-art analysis of ancient DNA to support investigation of the past for a wide range of applications by archaeologist, biologists, museum staff and others.

The Ancient DNA unit has dedicated clean-room laboratories for processing a range of sample types, and expertise in processing ancient DNA data. 

Key applications:

  • Project planning and sample evaluation
  • Ancient DNA extraction and library preparation
  • Ancient DNA data generation (with NGI)
  • Determination of ancient DNA preservation
  • Validation of DNA being ancient
  • Analysis of sex chromosomes and mtDNA/Y-chromosome hapologroup
  • Analysis of kinship between individuals
  • Custom data analysis

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Bioinformatics Support

The SciLifeLab Bioinformatics platform (NBIS) offers support to genomics projects, such as:

  • Genetic variation and GWAS
  • Transcriptomics and epigenetics (bulk and single-cell)
  • Spatial transcriptomics and in-situ sequencing
  • Cancer genomics
  • Genome assembly and annotation
  • Population genomics and comparative genomics
  • Environmental and medical metagenomics
  • Ancient DNA
  • Biostatistics, machine learning and omics data integration
  • Data management of sensitive and non-sensitive genomics data

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Last updated: 2025-04-09

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