New NxClinical feature One-click uniparental heterodisomy (heteroUPD) detection

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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Problem 2 Overview hUPD


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).

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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.

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Learn more about the real-life application of this new UPD feature in NxClinical by watching this 10-minute case study.

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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Read more about where UPD detection started and how NxClinical is taking it to the next level.

There is more than the eye can see: enhanced detection of UPD (5 min read)


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