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Article

Uniparental disomy in a population of 32,067 clinical exome trios

25 Jan 2021

Abstract excerpt

PURPOSE: Data on the clinical prevalence and spectrum of uniparental disomy (UPD) remain limited. Trio exome sequencing (ES) presents a comprehensive method for detection of UPD alongside sequence and copy-number variant analysis. METHODS: We analyzed 32,067 ES trios referred for diagnostic testing to create a profile of UPD events and their disease associations. ES single-nucleotide polymorphism (SNP) and...

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PMID: 33495530
DOI: 10.1038/s41436-020-01092-8

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