GenomicsGenetics in MedicinePeer-reviewed
Long-read whole genome sequencing identifies causal structural variation in a Mendelian disease
Jason D. Merker, Aaron M. Wenger, Tam P. Sneddon…·Euan Angus Ashley
The paper uses long-read whole genome sequencing to identify a pathogenic structural variant in a patient with Carney complex, demonstrating the potential of LRS in diagnosing Mendelian diseases.
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