Comparative benchmarking of optical genome mapping and chromosomal microarray reveals high technological concordance in CNV identification and structural variant refinement
Hayk Barseghyan, Andy Wing Chun Pang, Ben Clifford, Moises A. Serrano, Alka Chaubey, Alex R. Hastie
This study compares optical genome mapping (OGM) and chromosomal microarray (CMA) for detecting copy number variants and structural variants, finding high concordance and additional structural insights from OGM.
medRxiv · Jan 21, 2023 · PreprintGenetic & Genomic Medicine