Although the resolution of chromosomal changes detectable by karyotyping is typically a few megabases, this can be sufficient to diagnose certain categories of abnormalities. For example ...

You have full access to this article via your institution. We captured images with video/CCD cameras or a digital camera (DP-10, Olympus), replacing the 'classic' film cameras mounted on older ...

A case study published by researchers at Johns Hopkins University showed that optical genome mapping (OGM) detected a structural variant that was missed by karyotyping and non-informative by FISH, ...

Microarray analysis identifies more chromosome abnormalities than traditional karyotyping in prenatal testing. Microarrays will also identify findings of unclear clinical significance that should ...

This research by Johns Hopkins University revealed that OGM detected all variants identified by traditional cytogenetic methods, achieving 100% concordance with karyotyping and FISH, while also ...