Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes
Evan K. Maxwell, Jonathan S. Packer, Colm T. O’Dushlaine, Shane McCarthy, Abby E. Hare-Harris, Jeffrey C. Staples, Claudia G. Gonzaga-Jauregui, Samantha N. Fetterolf, W. Andrew Faucett, Joseph B. Leader, Andrés Moreno-De-Luca, Giusy Della Gatta, Margaret E. Scollan, Trikaldarshi Persaud, John Penn, , 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.
bioRxiv · Mar 22, 2017 · PreprintGenomics