Abstract
Children with developmental delays and/or congenital anomalies with suspected genetic etiology are often tested for structural variation (SVs) by chromosomal microarray (CMA). Because copy number variants (CNVs) are often found to be causative, CMA is recommended as a first-tier testing for many indications. Optical genome mapping (OGM) is an accurate technique for enabling the detection of CNVs similar to a CMA, but with added benefit of detecting balanced rearrangements and repeat array analysis.
Full Text 
Sign-in/Register to access full text options
Sign-in/Register to access full text options 
Published version (
Free)
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
