GenomicsbioRxivPreprint
Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes
Evan K. Maxwell, Jonathan S. Packer, Colm T. O’Dushlaine…·Jeffrey G. Reid
The paper identifies and analyzes exonic copy number variants (CNVs) in 50,726 DiscovEHR participants, linking them to clinical traits and phenotypes.
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