Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.

Heidi CopeHayk BarseghyanSurajit BhattacharyaYulong FuNicole HoppmanCherisse MarcouNicole WalleyCatherine RehderKristen DeakAnna Alkelainull nullEric VilainVandana Shashi

Published in: Molecular genetics & genomic medicine (2021)

OGM affords an effective technology for the detection of SVs, especially those that are mosaic, since these remain difficult to detect with current NGS technologies and with conventional chromosomal microarrays. Further research in undiagnosed populations with OGM is warranted.

Keyphrases

high resolution
loop mediated isothermal amplification
real time pcr
label free
genome wide
copy number
computed tomography
dna methylation