A SYSTEMATIC RE-ANALYSIS OF COPY NUMBER LOSSES OF UNCERTAIN CLINICAL SIGNIFICANCE
George J. Burghel, Jamie M. Ellingford, Ronnie Wright, Lauren Bradford, Jake A. Miller, Christopher Watt, Jonathan J Edgerley, Farah Naeem, Siddharth Banka
The paper re-analyzes clinical aCGH data to identify pathogenic copy number losses, finding that 7.2% of class 3 variants were reclassified as pathogenic or likely pathogenic.
medRxiv · Jul 2, 2023 · PreprintGenetic & Genomic Medicine