When analyzing SNP data, NxClinical users who deploy this new feature can now further investigate uniparental heterodisomy events within duos and trios with one simple click - saving them valuable time during the review process.
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The probe track view in NxClinical shows greater detail related to the supporting probes involved in this heteroUPD15 example. Enlarge the image to the right to reveal the heteroUPD15 visualized on both the top chromosome view (represented by the pink horizontal line) and the BAF plot for parental informative SNPs (pink=maternal).
Within the karyogram view, vertical bars are drawn within the AOH affected chromosome(s) to indicate parent-of-origin (pink=maternal; blue=paternal), and the same color indicators are displayed in the zygosity track. The image to the left displays a maternal inheritance represented by the pink probes on the BAF track.
Click here to watch this case study.
Presented by Amber Boys
Senior Medical Scientist in the Division of Genetics and Genomics at the Victorian Clinical Genetics Services, Melbourne
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There is more than the eye can see: enhanced detection of UPD (5 min read)
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