The National Genomics Infrastructure (NGI) is the largest technical platform and provides access to technology for massively parallel/next generation DNA sequencing, genotyping and associated bioinformatics support. The platform comprises two nodes: NGI Stockholm and NGI Uppsala (SNP&SEQ Technology Platform and Uppsala Genome Center). Please visit the National Genomics Infrastructure homepage (https://ngisweden.scilifelab.se/) for more information about the genomics platforms hosted at SciLifeLab.
The technical development in the genomics area has been overwhelming in recent years and the next generation sequencing instruments now allow large-scale genomics on a previously unattainable scale. The next-generation DNA sequencing techniques can be used for a variety of studies: whole genome resequencing, complete exome sequencing (all exonic sequences), de novo sequencing, targeted sequencing of regions in single or multiple individuals, transcriptome profiling including quantification and identification of transcript isoforms and miRNAs, ChIP-Seq to detect transcription binding sites across the genome and targeted sequencing of amplicons such as 16S rRNA genes and metagenomic sequencing of microflora genomes.
Modern genome analyses critically depend on expertise in computational biology (e.g. bioinformatics, biostatistics, and theoretical systems biology). Such expertise is closely integrated with the National Genomics Infrastructure unit hosted at SciLifeLab in order to optimize throughput, data handling, and basic analysis.