Søren L. Faergeman on Muck Rack

Søren L. Faergeman

As seen in: Nature
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Articles

Short-read genome sequencing at population scale: diagnostic insights from 2317 patients

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By Lotte Andreasen, Naja Becher, Mette Christiansen, Claus H. Gravholt, Uffe Jensen, Søren Vang, Dorte Lildballe, Søren L. Faergeman, Ole H. Larsen, Sara Markholt, Katrine S. Sandgaard
| Nature
Abstract As part of the Danish National Genome Centre (DNGC) initiative, the Central Denmark Region has implemented short-read whole-genome sequencing (srWGS) as a first-tier diagnostic tool for suspected monogenetic disorders. Despite increasing adoption of genome sequencing, evidence from large-scale implementation across clinical specialties remains limited. Here, we evaluate the implementation from patient inclusion and srWGS scaling to diagnostic performance.
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