head, computational genomics laboratory
Key Research Areas
Research Overview
High-throughput genome sequencing technologies have revolutionised our understanding of human genetic diseases. What we need now is the new computational approaches to catch up to recent advances in this sequencing technology. This will enable researchers to explore massive datasets more easily and translate the insights contained within to help realise a future where personalized medicine based on individual genomes is the norm.
A/Prof Giannoulatou and her team analyse large amounts of genomic data to identify genetic causes of disease and understand fundamental mechanisms in biology. The main focus of her team is to identify the genetic causes of cardiovascular disease such as congenital heart disease, spontaneous coronary artery dissection and dilated cardiomyopathy.
There are 4 key projects underway in the Computational Genomics Laboratory, led by A/Prof Eleni Giannoulatou;
1. Identification of genetic causes of Congenital Heart Disease
Congenital heart disease (CHD) defines a large set of structural and functional deficits that arise during cardiac embryogenesis affecting 8 out of 1,000 live births. The cause of 80% of the CHD cases remains unknown. We develop quantitative approaches to analyse large sequencing datasets aiming to understand the genetic mechanisms underlying CHD. This project is part of a large collaborative study with Prof Sally Dunwoodie.
2. Development of novel bioinformatics methodology to increase the current diagnostic rate of genetic diseases
We develop state-of-the-art computational methods to analyse genomic data. These include variant calling and variant prioritisation methodology, identification of splice-altering variants and robust detection of copy number variation, among others. Applications include in-house medical genomics projects such as the Congenital Heart Disease whole genome sequencing project as well as other large genomic studies.
3. Exploring the genetic architecture of Spontaneous Coronary Artery Dissection
Spontaneous coronary artery dissection (SCAD) is an emergency condition that occurs when a tear forms in one of the blood vessels in the heart. If not diagnosed and treated quickly, it can cause heart attack or sudden death. SCAD predominantly affects young healthy women with no obvious risk factors. To date no obvious cause of this acute disease has been identified. A/Prof Giannoulatou is leading the genomic analysis of a large collaborative project with Prof Bob Graham aiming to discover the genetic causes of SCAD.
4. Bioinformatics of the Australian Genomics Health Alliance Cardiovascular Flagship Data
A/Prof Giannoulatou is the co-lead of the Bioinformatics/Secondary Analysis of the genome data recruited and sequenced by the Australian Genomics Health Alliance (AGHA) Cardiovascular Flagship. Through this initiative, her team collaborates and interacts with a large multi-disciplinary group consisting of clinicians, geneticists and functional genomics experts to deliver the most accurate diagnosis to congenital heart disease and dilated cardiomyopathy patients.
Laboratory Members
Mikhail Gudkov, PhD Student
Eddie Ip, PhD Student
Shannon Kwan, Master’s Student
Steven Monger, Research Assistant
Emma Rath, Postdoctoral Scientist
Anushi Shah, PhD Student
Ingrid Tarr, Research Assistant
Loïc Thibaut, Postdoctoral Scientist
Michael Troup, Research Assistant
Collaborators
Dr David Adlam, University of Leicester, UK
Nabila Bouatia-Naji, Paris Cardiovascular Research Center, France
Prof George Fountzilas, Aristotle University of Thessaloniki, Greece
A/Prof Anne Goriely, University of Oxford, UK
Prof Andrew Silver, University of London, UK
Prof David Winlaw, Heart Institute, Cardiothoracic Surgery, Cincinnati Children’s Hospital Medical Centre, Cincinnati, OH, USA