Diagnostic utility of blood transcriptome and methylome in children with undiagnosed genetic conditions
Grant Data
Project Title
Diagnostic utility of blood transcriptome and methylome in children with undiagnosed genetic conditions
Principal Investigator
Dr Chung, Brian Hon Yin
(Principal Investigator (PI))
Co-Investigator(s)
Mr Yeung Kit San
(Co-Investigator)
Professor Yang Wanling
(Co-Investigator)
Dr Liu Anthony Pak Yin
(Co-Investigator)
Dr Luk Ho Ming
(Co-Investigator)
Dr Wong Ming Sum Rosanna
(Co-Investigator)
Dr Lo Fai Man
(Co-Investigator)
Dr Fung Cheuk Wing
(Co-Investigator)
Dr Tung Joanna
(Co-Investigator)
Professor Chan Godfrey Chi Fung
(Co-Investigator)
Duration
36
Start Date
2021-09-01
Amount
4216641
Conference Title
Diagnostic utility of blood transcriptome and methylome in children with undiagnosed genetic conditions
Presentation Title
Keywords
DMA methylation, rare disease, RNA-seq, transcriptome, undiagnosed disease
Discipline
Others - Medicine, Dentistry and Health
HKU Project Code
PR-HKU-4
Grant Type
Commissioned Paediatric Research at Hong Kong Children's Hospital
Funding Year
2020
Status
On-going
Objectives
We will establish an analytical pipeline to detect RNA and DNA methylation (DNAm)signals, with the aim to complement the exome-based diagnosis of children with undiagnosed diseases and to evaluate the diagnostic yield of blood transcriptions and methylome.