Supporting data for \"Unrevealing Parental Mosaicism: The hidden answer to the recurrence of apparent de novo variants\"

Mianne Lee
In this study, I investigated the diagnostic yield of parental mosaicism in a cohort of 21 families with apparent de novo variants (DNVs) associated with neurodevelopmental disorders, and determined the usefulness of the detection of parental mosaicism to the management and genetic counselling of patients. Buccal and sperm samples were collected from the parents to detect potential parental mosaicism by digital PCR (dPCR)/droplet digital PCR (ddPCR), with blocker displacement amplification (BDA) whenever possible.
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