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Precise diagnosis with whole genome sequencing in healthcare setting


Key points from article :

The first five years of collaboration on whole genome sequencing between Karolinska University Hospital and SciLifeLab.

"..sequencing each patients' entire genome to find genetic explanations for different diseases," - Henrik Stranneheim, first author.

Carried out genome sequencing of 3,219 patients, which led to molecular diagnoses for 1,287 patients with rare diseases.

Found pathogenic mutations in more than 750 genes and discovered 17 novel disease genes.

Findings enabled personalised treatment for patients.

Initial analysis in genes deemed relevant for each patient's clinical symptoms.

If first assessment fails, the analysis is broadened to more gene panels.

Identification of several previously unknown disease genes.

Established a joint center for precision medicine that will consolidate expand the collaboration.

Study by Karolinska Institutet published in Genome Medicine.

Over 1000 people with rare diseases were identified within 5 years of collaboration

Mentioned in this article:

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Clinical researcher at Karolinska Institutet


Public Medical university.

Health Organisation

Hospital based in Stockholm, Sweden


National center for molecular biosciences based in Sweden