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Investigation of Balanced Chromosomal Abnormality by analyzing Whole Genome Sequence (WGS) data

mullinyu - Posted on 06 September 2017

Project Description: 

This project is to identify the genetic causes of 20 patient with balanced chromosomal abnormality by analyzing Whole Genome Sequence (WGS) data. Throughout this project, a machine learning approach will be derived to prioritize the pathogenic variants identified. This will help the pre-diagnosis and pro-diagnosis of patients and finally may contribute to the clinical setup in future.

Researcher name: 
Dr Brian Hon-Yin Chung
Researcher position: 
Clinical Associate Professor
Researcher department: 
Department of Paediatrics and Adolescent Medicine
Researcher email: 
bhychung@hku.hk
Research Project Details
Project Duration: 
09/2017 to 12/2018
Project Significance: 
This will help the pre-diagnosis and pro-diagnosis of patients and finally may contribute to the clinical setup in future.
Remarks: 
HPC can provide a powerful and stable computing resources to run the analysis as this kind of big data analysis requires high demand of latest and cutting edge computing servers.