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US 12,008,755 B2Granted
Chromosomal enhancement and automatic detection of chromosomal abnormalities using chromosomal ideograms
AssigneesNational Guard Health Affairs, King Saud bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center
InventorsYahya Abdulfattah Bokhari, Areej Abdulaziz Alhareeri, Azizah Mohammed Alkhaldi, Abdulrhman Fahad Aljouie
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Abstract
A method for detecting chromosomal abnormalities comprising conversion of a chromosomal image into an ideogram which is compared to a control or standard ideogram of a chromosome; or converting an ideogram of a chromosome into a chromosomal image.
Claims20
A computer-implemented method for detecting chromosomal abnormalities cryptic deletions or putative cryptic deletions comprising:
- obtaining an image of a banding pattern of a chromosome comprising a cryptic deletion or putative cryptic deletion,
- converting the image into an ideogram depicting said banding pattern,
- comparing the ideogram to an ideogram of an image of a paired control chromosome not comprising the cryptic deletion or putative cryptic deletion, and
- identifying a difference in a banding pattern between the ideogram of the chromosome and the ideogram of the paired control chromosome,
- wherein said difference indicates a cryptic deletion or putative cryptic deletion in the imaged chromosome.
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