HKU Data Repository

Experimental dataset and clinical dataset

Reason: Data not published yet

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

posted on 2022-10-07, 01:41 authored by Mianne LeeMianne 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.

This dataset consisted of 2 parts. First part includes sensitive clinical data including but not limited to patients’ rare diseases and clinical records, parental age of conception/childbirth, parental health status, family history and clinical records, all of which were strictly confidential. Second part includes experimental primer/probe sequence/condition for dPCR/ddPCR/BDA that can be shared.


Seed Fund for Basic Research (project code: 201910159064) by the University of Hong Kong

The Society for the Relief of Disabled Children