Whole genome sequencing improves diagnosis of rare diseases
Educatie
Karolinska Institutet Mar 30 2026 A collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has integrated whole genome sequencing into routine diagnostic investigations for rare diseases at Karolinska University Hospital. To date, more than 15,000 patients have had their entire genome sequenced, with 23 per cent receiving a genetic diagnosis, according to a study published in Genome Medicine . The study describes how, over the past decade, Karolinska
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