Genetic & Genomic MedicinemedRxivPreprint
A SYSTEMATIC RE-ANALYSIS OF COPY NUMBER LOSSES OF UNCERTAIN CLINICAL SIGNIFICANCE
George J. Burghel, Jamie M. Ellingford, Ronnie Wright…·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.
DOI 10.1101/2023.07.02.23292123