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ContactUniparental disomy in a population of 32,067 clinical exome trios
Trio exome sequencing (ES) presents a comprehensive method for detection of UPD alongside sequence and copy-number variant analysis.
Monday, Sept. 2, is Labor Day. Our lab and all support services will be closed. Kit orders placed on Sept. 2 will be sent on Sept. 3, and all in-transit patient samples will be held by the carrier and received on Sept. 3. If you need assistance, please leave a message at 888-729-1206 or Support@GeneDx.com and we will respond when we return on Sept. 3.
Trio exome sequencing (ES) presents a comprehensive method for detection of UPD alongside sequence and copy-number variant analysis.
With the goal of identifying novel genes associated with developmental disorder, this study leveraged over 30,000 parent-offspring exome trios to identify gene-specific enrichments of de novo variants.
Report of the overall diagnostic yield of GeneDx’s first 3,040 exome cases (28.8%). This study identified that analysis of trios significantly improves diagnostic yield compared to proband-only testing for genetically heterogeneous disorders.