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Can Droplet Digital™ PCR Detect 22q11.2 Deletion Syndrome?

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Published on Mar 10, 2014

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Researchers at UC Davis applied Droplet Digital PCR (ddPCR™) technology to determine copy number variation (CNV) and to characterize the deletion end points of the region of chromosome 22 that is deleted in 22q11DS. They found that ddPCR assays rapidly produced high-resolution copy number change measurements and defined the position of the deletion end points with great sensitivity and specificity.

The Droplet Digital PCR system allows for the quantification of target DNA with unrivaled precision by partitioning samples into 20,000 nanoliter-sized droplets. After PCR on a thermal cycler, PCR-positive and PCR-negative droplets are counted to provide absolute quantification of the target DNA. Since its introduction two years ago, ddPCR technology has transformed multiple fields of research, including infectious disease, cancer biomarker analysis, and genomic variation analysis.

Presenter: Vicki Hwang
Vicki is a graduate student in Dr. Flora Tassone's laboratory at UC Davis. The Tassone lab focuses on a number of neuro-developmental disorders including Autism Spectrum Disorders and 22q11.2 deletion syndrome.

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