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The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation

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By Angelo Salazar, De Geer, Oda Blomqvist
| link.springer.com
Patients The study describes an ongoing, real-time implementation of genomics into clinical medicine across a complex healthcare system. Patients were referred from various subspecialized clinics within the Stockholm healthcare region, as well as for some disease groups, from the whole of Sweden. Some also originate from primary care and from school health physicians. Different workflows were customized to meet these highly variable clinical scenarios, as described in the results section.
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