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Whole genome or targeted DNA sequencing

Physical
Pricing/Discount Options: Call #2
Unique Identifier: 921002c6-7265-4209-9d13-965cbca015e2

Service Description

The Unit: Clinical Genomics Stockholm (https://www.scilifelab.se/units/clinical-genomics-stockholm/) This infrastructure is part of Science for Life Laboratory (SciLifeLab) which is an academic collaboration between Swedish universities (including Karolinska Institutet) and a national research infrastructure with a focus on life science. Clinical Genomics Stockholm unit is a research infrastructure for large-scale, genomics-based analyses using next generation sequencing technologies. The unit assists in translational research projects, in the translation of genomics-based tools to routine clinical care and also aims to improve the capability for national microbial surveillance and for pandemic preparedness.

The Service: Whole genome or targeted DNA sequencing Sequencing of the entire human genome (with a PCR-free protocol) or selected parts of the genome (through exome or panel sequencing), followed by germline or somatic analysis. This service encompasses: o Consultation (Project design, Target capture design) o Sample management o DNA sequencing (Whole Genome Seq (WGS), Whole Exome Seq (WES), Panels) o Bioinformatics (Bioinformatic analysis (data generated at CG) Equipment: Our unit has access to specialized equipment that enable us to factilitate the translation of new high-throughput techniques into clinical use. These include, but are not restricted to: • Various automatic robotic systems (BRAVO NGS Workstation, Hamilton NGS Star) • Various systems for QC, quantification and fragment analyses (TapeStation, Quantification using fluorescent assay (Qubit, Quantit)) • Instrumentation for real time PCR and ddPCR (BioRad qPCR) • Instrumentation for Multispectral imaging (Saphyr optical mapper) • Sequencing platforms: o Illumina (NovaSeq 6000, NovaSeq 6000 Dx, NovaSeq X) o Nanopore (PromethION “access via NGI”) o PacBio (Revio)

Prospective Use case: AI based software solution uses WGS data to identify genetic biomarkers to help clinicians either during diagnostic phase and/or at the treatment phase in order to identify genetic aberrations possibly explaining the disease onset or to assist in the therapeutic decisions such as for example in breast cancer the presence of BRCA1 mutation.
AI software can be trained to learn to deliver diagnostic based on WGS data (especially needed in the field of rare diseases) to recognize genetic variations (from single nucleotide to over 50bp deletion or insertion) in a more robust and accurate manner (to limit generation of false negative or false positive cases) to support clinicians in their decision process.

Offerings: Research & Development Scientific & Medical Communication Testing Laboratory (bioanalysis, wet lab, *-omics, etc.)
TEF-Health Use Case Domain: Cardiovascular
Provider Logo Service Logo

Provider & Contact

Provider Organisation Karolinska Institutet (KI)
Provider Country Sweden
Published Email tef-health@ki.se

Pricing is available to registered users. SMEs receive significant state-aid reductions (GBER) — or, depending on the call, free services during the funded project. Sign in or register to see the price for your organisation.

Operational Details

Service Inputs Biological sample
Service Outputs Sequencing data analysis
Dependencies & Restrictions ethics vote, GDPR, Facility costs, Material Transfer Agreement
Service Standards
  • ISO 13485

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