Associate Professor Eleni Giannoulatou
Conjoint Associate Professor

Associate Professor Eleni Giannoulatou

DPhil in Bioinformatics, University of Oxford, 2011

MPhil in Computational Biology, University of Cambridge, 2005

MEng in Computer Engineering and Informatics, University of Patras, 2004


Medicine & Health
School of Clinical Medicine

Eleni Giannoulatou graduated with a Masters of Computer Engineering and Informatics from the University of Patras, Greece in 2004. She next received her Master of Philosophy in Computational Biology from the University of Cambridge, UK and her Doctor of Philosophy in Bioinformatics from the University of Oxford, UK in 2011. She undertook postdoctoral work at the Wellcome Trust Centre for Human Genetics in Oxford as part of the Wellcome Trust Case Control Consortium and the Weatherall Institute of Molecular Medicine in Oxford. 

Associate Professor Giannoulatou joined the Victor Chang Cardiac Research Institute in 2013 as a member of the Bioinformatics and Systems Medicine Laboratory and in 2016 she started an independent research group.

A/Prof Giannoulatou’s research focuses on the development and application of statistical methods to answer genetic questions using high-throughput genomics data. Using the latest next-generation sequencing technologies, her team develops quantitative approaches to identify disease-causing DNA mutations and increase the current genetic diagnostic rate of cardiovascular disease.

(02) 9295 8669
Victor Chang Cardiac Research Institute Lowy Packer Building 405 Liverpool St Darlinghurst NSW 2010 Australia
  • Journal articles | 2022
    Blokland GAM; Grove J; Chen CY; Cotsapas C; Tobet S; Handa R; St Clair D; Lencz T; Mowry BJ; Periyasamy S; Cairns MJ; Tooney PA; Wu JQ; Kelly B; Kirov G; Sullivan PF; Corvin A; Riley BP; Esko T; Milani L; Jönsson EG; Palotie A; Ehrenreich H; Begemann M; Steixner-Kumar A; Sham PC; Iwata N; Weinberger DR; Gejman PV; Sanders AR; Buxbaum JD; Rujescu D; Giegling I; Konte B; Hartmann AM; Bramon E; Murray RM; Pato MT; Lee J; Melle I; Molden E; Ophoff RA; McQuillin A; Bass NJ; Adolfsson R; Malhotra AK; Martin NG; Fullerton JM; Mitchell PB; Schofield PR; Forstner AJ; Degenhardt F; Schaupp S; Comes AL; Kogevinas M; Guzman-Parra J; Reif A; Streit F; Sirignano L; Cichon S; Grigoroiu-Serbanescu M; Hauser J; Lissowska J; Mayoral F; Müller-Myhsok B; Swiatkowska B; Schulze TG; Nöthen MM; Rietschel M; Kelsoe J; Leboyer M; Jamain S; Etain B; Bellivier F; Vincent JB; Alda M; O'Donovan C; Cervantes P; Biernacka JM; Frye M; McElroy SL; Scott LJ; Stahl EA; Landén M; Hamshere ML; Smeland OB; Djurovic S; Vaaler AE; Andreassen OA; Baune BT; Air TM; Preisig M; Uher R; Levinson DF; Weissman MM; Potash JB; Shi J; Knowles JA; Perlis RH; Lucae S, 2022, 'Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders', Biological Psychiatry, vol. 91, pp. 102 - 117,

A/Prof Giannoulatou has been awarded a Heart Foundation Future Leader Fellowship, a NSW Health Early-Mid Career Fellowship and a NSW Health Early-Mid Career Researcher Cardiovascular Grant. She is currently co-investigator in multiple funded grants including: 3 NHMRC Project Grants (2 as CIB and 1 as CIC), a NHMRC Synergy Grant (CIC) and a MRFF Project Grant. 

Key Research Areas

•    Bioinformatics & Statistical Genetics
•    Analysis of high-throughput genomic datasets (whole genome/exome sequencing, RNA-seq)
•    Genetics of Cardiovascular Disease such as Congenital Heart Disease, Spontaneous Coronary Artery Dissection and Dilated Cardiomyopathy

Research Overview

High-throughput genome sequencing technologies have revolutionised our understanding of human genetic diseases. What is currently needed is new computational approaches to match these recent advances in 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.