GenomicsGenetics in MedicinePeer-reviewed
Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease
Andrew M. Gross, Subramanian S. Ajay, Vani Rajan…·Ryan J. Taft
This study evaluates copy number variant detection in clinical whole genome sequencing, finding it as sensitive as microarrays with additional variants, and identifies clinically significant CNVs in 15% of cases.
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