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Aase Krogh Rasmussen on Muck Rack

Aase Krogh Rasmussen

As seen in: Nature
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Articles

Comprehensive reanalysis of 2,040 undiagnosed clinical whole-genome sequencing cases improves diagnostic yield

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By Majbritt Busk Madsen, Andreas Rasmussen, Benjamin H. Conlon, Line Borgwardt, Anna Hansen, Emma Scott, Magnús Gíslason, Eva Birgitte Leinøe, Andreas Glenthøj, Tania Nicole Masmas, Terese L. Katzenstein, Karin Wadt, Martin Højgaard, Kristoffer Staal Rohrberg, Maria Rossing, Mira Marie Laustsen, Aase Krogh Rasmussen, Flemming Skovby
| Nature Verified
Abstract Comprehensive genomic analysis, including whole-genome sequencing (WGS), enables iterative data reanalysis, potentially improving diagnostic yield as new gene–disease associations and analytical methods emerge. Although reanalysis has been shown to increase diagnostic yield across disease groups, uncertainty remains regarding its optimal timing and overall impact.
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