Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants.

Authors:
Lee M; Lui ACY; Chan JCK; Doong PHL; Kwong AKY and 4 more

Journal:
Hum Genomics

Publication Year: 2023

DOI:
10.1186/s40246-023-00535-y

PMCID:
PMC10557286

PMID:
37798624

View on PubMed View on PMC View Publisher
Journal Information

Full Title: Hum Genomics

Abbreviation: Hum Genomics

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

Related Papers from Same Journal
A broad wastewater screening and clinical data surveillance for virus-related diseases in the metro…
Li Y; Miyani B; Faust RA and 2 more (2024) - Transparency Score: 3/6
A novel upregulated hsa_circ_0032746 regulates the oncogenesis of esophageal squamous cell carcinom…
Shrestha SM; Fang X; Ye H and 3 more (2024) - Transparency Score: 4/6
Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.
Ju Y; Chen T; Ruan L and 3 more (2024) - Transparency Score: 3/6
Solanidine is a sensitive and specific dietary biomarker for CYP2D6 activity.
Kiiski JI; Neuvonen M; Kurkela M and 10 more (2024) - Transparency Score: 3/6
Wastewater-based epidemiology applied at the building-level reveals distinct virome profiles based …
Mejías-Molina C; Pico-Tomàs A; Martínez-Puchol S and 7 more (2024) - Transparency Score: 4/6
View All Papers from This Journal
Transparency Score
3/6
50.0% Transparent
Transparency Indicators
Click on green indicators to view evidence text
Core Indicators
Data Sharing
Code Sharing
Evidence found in paper:

"Declarations Ethics approval and consent to participateWritten informed consent was obtained from parents of the patients to participate in the study. This study was approved by the Institutional Review Board of the University of Hong Kong/Hospital Authority Hong Kong West Cluster. (UW 12–211). Competing interestsThe authors declare that they have no competing interests. Competing interests The authors declare that they have no competing interests."

Evidence found in paper:

"Funding This project is supported by the Seed Funding for Basic Research (201910159064) from the University of Hong Kong, the Society for the Relief of Disabled Children in Hong Kong, and the Edward and Yolanda Wong Fund."

Protocol Registration
Open Access
Paper is freely available to read
Additional Indicators
Replication
Novelty Statement
Assessment Info

Tool: rtransparent

OST Version: N/A

Last Updated: Aug 05, 2025