EP317: Comparative benchmarking of optical genome mapping and chromosomal microarray reveals high technological concordance in CNV identification and structural variant refinement

Abstract

Children with developmental delays and/or congenital anomalies with suspected genetic etiology are often tested for structural variations (SVs) by chromosomal microarray (CMA), karyotype, fragile X testing, and sequencing. Because copy number variation (CNV) and structural variation are often found to be causative, CMA is recommended as first tier testing for many indications. Optical genome mapping (OGM) is an accurate technique for enabling the detection of CNVs similar to a high-resolution CMA, and also balanced rearrangements which cannot be detected by CMA.