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Accurate detection of clinically relevant uniparental disomy from exome sequencing data.

Kevin YauyNicole de LeeuwHelger G YntemaRolph PfundtChristian Gilissen
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
UPD can easily be identified using both single and trio ES and may be clinically relevant to patients. UPD analysis should become routine in clinical ES, because it increases the diagnostic yield and could affect genetic counseling.
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