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

Julie ScuffinsJennifer Keller-RameyLindsay DyerGanka DouglasRebecca ToreneVladimir GainullinJane JuusolaJeanne MeckKyle Retterer

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)

Whole-chromosome UPD was observed in 0.31% of cases, resulting in a diagnostic finding in 0.14%. Only three UPD-positive cases had a diagnostic finding unrelated to the UPD. Thirteen UPD events were identified in cases with prior normal SNP chromosomal microarray results, demonstrating the additional diagnostic value of UPD detection by trio ES.

Keyphrases

copy number
genome wide
gene expression
dna methylation