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
Professor Chung, Brian Hon Yin
(Principal Investigator (PI))
Co-Investigator(s)
Dr Lo Fai Man
(Co-Investigator)
Professor Chan Godfrey Chi Fung
(Co-Investigator)
Dr Wong Ming Sum Rosanna
(Co-Investigator)
Professor Yang Wanling
(Co-Investigator)
Mr Yeung Kit San
(Co-Investigator)
Dr Luk Ho Ming
(Co-Investigator)
Dr Fung Cheuk Wing
(Co-Investigator)
Dr Tung Joanna
(Co-Investigator)
Professor Liu Anthony Pak Yin
(Co-Investigator)
Duration
39
Start Date
2021-09-01
Amount
4216641
Conference Title
Diagnostic utility of blood transcriptome and methylome in children with undiagnosed genetic conditions
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.