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.
 

Phone
(02) 9295 8669
Location
Victor Chang Cardiac Research Institute Lowy Packer Building 405 Liverpool St Darlinghurst NSW 2010 Australia
  • Book Chapters | 2016
    Wang X; McCormick HM; Djordjevic D; Giannoulatou E; Suter CM; Ho JWK, 2016, 'Epigenomic Analysis of Chromatin Organization and DNA Methylation', in Wong KC (ed.), COMPUTATIONAL BIOLOGY AND BIOINFORMATICS: GENE REGULATION GENE RNA PROTEIN EPIGENETICS, CRC PRESS-TAYLOR & FRANCIS GROUP, pp. 181 - 211, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000414703600009&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
  • Journal articles | 2023
    Al-Kaisey A; Wong GR; Young P; Chieng D; Hawson J; Anderson R; Sugumar H; Nalliah C; Prabhu M; Johnson R; Soka M; Tarr I; Bakshi A; Yu C; Lacaze P; Giannoulatou E; McLellan A; Lee G; Kistler PM; Fatkin D; Kalman JM, 2023, 'Polygenic risk scores are associated with atrial electrophysiologic substrate abnormalities and outcomes after atrial fibrillation catheter ablation.', Heart Rhythm, http://dx.doi.org/10.1016/j.hrthm.2023.02.011
    Journal articles | 2023
    Bernkopf M; Abdullah UB; Bush SJ; Wood KA; Ghaffari S; Giannoulatou E; Koelling N; Maher GJ; Thibaut LM; Williams J; Blair EM; Kelly FB; Bloss A; Burkitt-Wright E; Canham N; Deng AT; Dixit A; Eason J; Elmslie F; Gardham A; Hay E; Holder M; Homfray T; Hurst JA; Johnson D; Jones WD; Kini U; Kivuva E; Kumar A; Lees MM; Leitch HG; Morton JEV; Németh AH; Ramachandrappa S; Saunders K; Shears DJ; Side L; Splitt M; Stewart A; Stewart H; Suri M; Clouston P; Davies RW; Wilkie AOM; Goriely A, 2023, 'Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation', Nature Communications, vol. 14, pp. 853, http://dx.doi.org/10.1038/s41467-023-36606-w
    Journal articles | 2023
    Gudkov M; Thibaut L; Khushi M; Blue GM; Winlaw DS; Dunwoodie SL; Giannoulatou E, 2023, 'ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data', BMC bioinformatics, vol. 24, pp. 49, http://dx.doi.org/10.1186/s12859-023-05154-x
    Journal articles | 2022
    Bax M; Romanov V; Junday K; Giannoulatou E; Martinac B; Kovacic JC; Liu R; Iismaa SE; Graham RM, 2022, 'Arterial dissections: Common features and new perspectives', Frontiers in Cardiovascular Medicine, vol. 9, http://dx.doi.org/10.3389/fcvm.2022.1055862
    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, http://dx.doi.org/10.1016/j.biopsych.2021.02.972
    Journal articles | 2022
    Blue GM; Mekel M; Das D; Troup M; Rath E; Ip E; Gudkov M; Perumal G; Harvey RP; Sholler GF; Gecz J; Kirk EP; Liu J; Giannoulatou E; Hong H; Dunwoodie SL; Winlaw DS, 2022, 'Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes', American Heart Journal, vol. 244, pp. 1 - 13, http://dx.doi.org/10.1016/j.ahj.2021.10.185
    Journal articles | 2022
    Kobiela A; Frackowiak JE; Biernacka A; Hovhannisyan L; Bogucka AE; Panek K; Paul AA; Lukomska J; Wang X; Giannoulatou E; Krolicka A; Zielinski J; Deptula M; Pikula M; Gabrielsson S; Ogg GS; Gutowska-Owsiak D, 2022, 'Exposure of Keratinocytes to Candida Albicans in the Context of Atopic Milieu Induces Changes in the Surface Glycosylation Pattern of Small Extracellular Vesicles to Enhance Their Propensity to Interact With Inhibitory Siglec Receptors', Frontiers in Immunology, vol. 13, pp. 884530, http://dx.doi.org/10.3389/fimmu.2022.884530
    Journal articles | 2022
    Ridone P; Ishida T; Lin A; Humphreys DT; Giannoulatou E; Sowa Y; Baker MAB, 2022, 'The rapid evolution of flagellar ion selectivity in experimental populations of E. coli', Science Advances, vol. 8, pp. eabq2492, http://dx.doi.org/10.1126/sciadv.abq2492
    Journal articles | 2022
    Tarr I; Hesselson S; Iismaa SE; Rath E; Monger S; Troup M; Mishra K; Wong CMY; Hsu PC; Junday K; Humphreys DT; Adlam D; Webb TR; Baranowska-Clarke AA; Hamby SE; Carss KJ; Samani NJ; Bax M; McGrath-Cadell L; Kovacic JC; Dunwoodie SL; Fatkin D; Muller DWM; Graham RM; Giannoulatou E, 2022, 'Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing', Circulation: Genomic and Precision Medicine, vol. 15, pp. 267 - 277, http://dx.doi.org/10.1161/CIRCGEN.121.003527
    Journal articles | 2022
    Yang A; Alankarage D; Cuny H; Ip EKK; Almog M; Lu J; Das D; Enriquez A; Szot JO; Humphreys DT; Blue GM; Ho JWK; Winlaw DS; Dunwoodie SL; Giannoulatou E, 2022, 'CHDgene: A Curated Database for Congenital Heart Disease Genes', Circulation: Genomic and Precision Medicine, vol. 15, pp. E003539 - E003539, http://dx.doi.org/10.1161/CIRCGEN.121.003539
    Journal articles | 2021
    Alankarage D; Szot JO; Pachter N; Slavotinek A; Selleri L; Shieh JT; Winlaw D; Giannoulatou E; Chapman G; Dunwoodie SL, 2021, 'Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease', Human Molecular Genetics, vol. 29, pp. 1068 - 1082, http://dx.doi.org/10.1093/HMG/DDZ231
    Journal articles | 2021
    Alvarez MEV; Chivers M; Borovska I; Monger S; Giannoulatou E; Kralovicova J; Vorechovsky I, 2021, 'Transposon clusters as substrates for aberrant splice-site activation', RNA Biology, vol. 18, pp. 354 - 367, http://dx.doi.org/10.1080/15476286.2020.1805909
    Journal articles | 2021
    Chatzopoulos K; Kotoula V; Koliou GA; Giannoulatou E; Papadopoulou K; Karavasilis V; Pazarli E; Pervana S; Kafiri G; Tsoulfas G; Chrisafi S; Sgouramali H; Papakostas P; Pectasides D; Hytiroglou P; Pentheroudakis G; Fountzilas G, 2021, 'Genotype-phenotype associations in colorectal adenocarcinomas and their matched metastases', Human Pathology, vol. 107, pp. 104 - 116, http://dx.doi.org/10.1016/j.humpath.2020.10.009
    Journal articles | 2021
    Iismaa SE; Hesselson S; McGrath-Cadell L; Muller DW; Fatkin D; Giannoulatou E; Kovacic J; Graham RM, 2021, 'Spontaneous Coronary Artery Dissection and Fibromuscular Dysplasia: Vasculopathies With a Predilection for Women', Heart Lung and Circulation, vol. 30, pp. 27 - 35, http://dx.doi.org/10.1016/j.hlc.2020.05.110
    Journal articles | 2021
    Kalisch-Smith JI; Ved N; Szumska D; Munro J; Troup M; Harris SE; Rodriguez-Caro H; Jacquemot A; Miller JJ; Stuart EM; Wolna M; Hardman E; Prin F; Lana-Elola E; Aoidi R; Fisher EMC; Tybulewicz VLJ; Mohun TJ; Lakhal-Littleton S; De Val S; Giannoulatou E; Sparrow DB, 2021, 'Maternal iron deficiency perturbs embryonic cardiovascular development in mice', Nature Communications, vol. 12, pp. 3447, http://dx.doi.org/10.1038/s41467-021-23660-5
    Journal articles | 2021
    Kotoula V; Chatzopoulos K; Papadopoulou K; Giannoulatou E; Koliou GA; Karavasilis V; Pazarli E; Pervana S; Kafiri G; Tsoulfas G; Chrisafi S; Sgouramali H; Papakostas P; Pectasides D; Hytiroglou P; Pentheroudakis G; Fountzilas G, 2021, 'Genotyping data of routinely processed matched primary/metastatic tumor samples', Data in Brief, vol. 34, http://dx.doi.org/10.1016/j.dib.2020.106646
    Journal articles | 2021
    McGrath-Cadell L; Iismaa SE; Hesselson S; Muller DW; Fatkin D; Giannoulatou E; Kovacic JC; Graham RM, 2021, 'Recent Updates on Spontaneous Coronary Artery Dissection and Fibromuscular Dysplasia', International Journal of Integrative Cardiology, vol. 3, http://dx.doi.org/10.47275/2690-862x-121
    Journal articles | 2021
    Ridone P; Ishida T; Lin A; Humphreys D; Giannoulatou E; Sowa Y; Baker M, 2021, 'The rapid evolution of flagellar ion-selectivity in experimental populations of E. coli', , http://dx.doi.org/10.1101/2021.01.26.427765
    Journal articles | 2020
    Carss KJ; Baranowska AA; Armisen J; Webb TR; Hamby SE; Premawardhana D; Al-Hussaini A; Wood A; Wang Q; Deevi SVV; Vitsios D; Lewis SH; Kotecha D; Bouatia-Naji N; Hesselson S; Iismaa SE; Tarr I; McGrath-Cadell L; Muller DW; Dunwoodie SL; Fatkin D; Graham RM; Giannoulatou E; Samani NJ; Petrovski S; Haefliger C; Adlam D, 2020, 'Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation From Genome Sequencing', Circulation: Genomic and Precision Medicine, vol. 13, pp. E003030, http://dx.doi.org/10.1161/CIRCGEN.120.003030
    Journal articles | 2020
    Dickinson M; Kliszczak AE; Giannoulatou E; Peppa D; Pellegrino P; Williams I; Drakesmith H; Borrow P, 2020, 'Dynamics of Transforming Growth Factor (TGF)-β Superfamily Cytokine Induction During HIV-1 Infection Are Distinct From Other Innate Cytokines', Frontiers in Immunology, vol. 11, http://dx.doi.org/10.3389/fimmu.2020.596841
    Journal articles | 2020
    Fountzilas E; Kotoula V; Koliou GA; Giannoulatou E; Gogas H; Papadimitriou C; Tikas I; Zhang J; Papadopoulou K; Zagouri F; Christodoulou C; Koutras A; Makatsoris T; Chrisafi S; Linardou H; Varthalitis I; Papatsibas G; Razis E; Papakostas P; Samantas E; Aravantinos G; Bafaloukos D; Kosmidis P; Koumarianou A; Psyrri A; Pentheroudakis G; Pectasides D; Futreal A; Fountzilas G; Tsimberidou AM, 2020, 'Pathogenic mutations and overall survival in 3,084 patients with cancer: The Hellenic Cooperative oncology group precision medicine initiative', Oncotarget, vol. 11, pp. 1 - 14, http://dx.doi.org/10.18632/oncotarget.27338
    Journal articles | 2020
    Ip EKK; Hadinata C; Ho JWK; Giannoulatou E, 2020, 'Dv-trio: A family-based variant calling pipeline using DeepVariant', Bioinformatics, vol. 36, pp. 3549 - 3551, http://dx.doi.org/10.1093/bioinformatics/btaa116
    Journal articles | 2020
    Kalisch-Smith J; Ved N; Szumska D; Munro J; Troup M; Harris S; Jacquemot A; Miller J; Stuart E; Wolna M; Hardman E; Prin F; Lana-Elola E; Aoidi R; Fisher E; Tybulewicz V; Mohun T; Lakhal-Littleton S; Giannoulatou E; Sparrow D, 2020, 'Maternal iron deficiency perturbs embryonic cardiovascular development', , http://dx.doi.org/10.1101/2020.08.03.230615
    Journal articles | 2020
    Kamitaki N; Sekar A; Handsaker RE; de Rivera H; Tooley K; Morris DL; Taylor KE; Whelan CW; Tombleson P; Loohuis LMO; Ripke S; Neale BM; Corvin A; Walters JTR; Farh KH; Holmans PA; Lee P; Bulik-Sullivan B; Collier DA; Huang H; Pers TH; Agartz I; Agerbo E; Albus M; Alexander M; Amin F; Bacanu SA; Begemann M; Belliveau RA; Bene J; Bergen SE; Bevilacqua E; Bigdeli TB; Black DW; Bruggeman R; Buccola NG; Buckner RL; Byerley W; Cahn W; Cai G; Cairns MJ; Campion D; Cantor RM; Carr VJ; Carrera N; Catts SV; Chambert KD; Chan RCK; Chen RYL; Chen EYH; Cheng W; Cheung EFC; Chong SA; Cloninger CR; Cohen D; Cohen N; Cormican P; Craddock N; Crespo-Facorro B; Crowley JJ; Curtis D; Davidson M; Davis KL; Degenhardt F; Del Favero J; DeLisi LE; Demontis D; Dikeos D; Dinan T; Djurovic S; Donohoe G; Drapeau E; Duan J; Dudbridge F; Durmishi N; Eichhammer P; Eriksson J; Escott-Price V; Essioux L; Fanous AH; Farrell MS; Frank J; Franke L; Freedman R; Freimer NB; Friedl M; Friedman JI; Fromer M; Genovese G; Georgieva L; Gershon ES; Giegling I; Giusti-Rodríguez P; Godard S; Goldstein JI; Golimbet V; Gopal S; Gratten J; de Haan L; Mitjans M, 2020, 'Complement genes contribute sex-biased vulnerability in diverse disorders', Nature, vol. 582, pp. 577 - 581, http://dx.doi.org/10.1038/s41586-020-2277-x
    Journal articles | 2020
    Nikolaidi A; Kotoula V; Koliou GA; Giannoulatou E; Papadopoulou K; Zagouri F; Pentheroudakis G; Gogas H; Bobos M; Chatzopoulos K; Oikonomopoulos G; Pectasides D; Saloustros E; Arnogiannaki N; Nicolaou I; Papakostas P; Bompolaki I; Aravantinos G; Athanasiadis I; Fountzilas G, 2020, 'Tumor mutational patterns and infiltrating lymphocyte density in young and elderly patients with breast cancer', Cancer Genomics and Proteomics, vol. 17, pp. 181 - 193, http://dx.doi.org/10.21873/cgp.20179
    Journal articles | 2020
    Pectasides E; Chatzidakis I; Kotoula V; Koliou GA; Papadopoulou K; Giannoulatou E; Giannouzakos VG; Bobos M; Papavasileiou C; Chrisafi S; Florou A; Pectasides D; Fountzilas G, 2020, 'Prognostic Biomarkers in Early-stage Gastric Adenocarcinoma Treated with Adjuvant Chemoradiotherapy', Cancer Genomics and Proteomics, vol. 17, pp. 277 - 290, http://dx.doi.org/10.21873/cgp.20188
    Journal articles | 2020
    Wang Q; Ye J; Fang D; Lv L; Wu W; Shi D; Li Y; Yang L; Bian X; Wu J; Jiang X; Wang K; Wang Q; Hodson MP; Thibaut LM; Ho JWK; Giannoulatou E; Li L, 2020, 'Multi-omic profiling reveals associations between the gut mucosal microbiome, the metabolome, and host DNA methylation associated gene expression in patients with colorectal cancer', BMC Microbiology, vol. 20, pp. 83, http://dx.doi.org/10.1186/s12866-020-01762-2
    Journal articles | 2019
    Adlam D; Olson TM; Combaret N; Kovacic JC; Iismaa SE; Al-Hussaini A; O'Byrne MM; Bouajila S; Georges A; Mishra K; Braund PS; d'Escamard V; Huang S; Margaritis M; Nelson CP; de Andrade M; Kadian-Dodov D; Welch CA; Mazurkiewicz S; Jeunemaitre X; Motreff P; Belle L; Dupouy P; Barnay P; Meneveau N; Gilard M; Rioufol G; Range G; Brunel P; Delarche N; Filippi E; Le Bivic L; Harbaoui B; Benamer H; Cayla G; Varenne O; Manzo-Silberman SP; Silvain J; Spaulding C; Caussin C; Gerbaud E; Valy Y; Koning R; Lhermusier T; Champin S; Salengro E; Fluttaz A; Zabalawi A; Cottin Y; Teiger E; Saint-Etienne C; Ducrocq G; Marliere S; Boiffard E; Aubry P; Georges JL; Bresson D; De Poli F; Karrillon G; Roule V; Bali L; Valla M; Gerbay A; Houpe D; Dubreuil O; Monnier A; Mayaud N; Manchuelle A; Commeau P; Bedossa M; Wong CMY; Giannoulatou E; Sweeting M; Muller D; Wood A; McGrath-Cadell L; Fatkin D; Dunwoodie SL; Harvey R; Holloway C; Empana JP; Jouven X; Nikpay M; Goel A; Won HH; Hall LM; Willenborg C; Kanoni S; Saleheen D; Kyriakou T; Hopewell JC; Webb TR; Zeng L; Dehghan A; Alver M; Armasu SM; Auro K; Bjonnes A; Chasman DI; Chen S, 2019, 'Association of the PHACTR1/EDN1 Genetic Locus With Spontaneous Coronary Artery Dissection', Journal of the American College of Cardiology, vol. 73, pp. 58 - 66, http://dx.doi.org/10.1016/j.jacc.2018.09.085
    Journal articles | 2019
    Alankarage D; Ip E; Szot JO; Munro J; Blue GM; Harrison K; Cuny H; Enriquez A; Troup M; Humphreys DT; Wilson M; Harvey RP; Sholler GF; Graham RM; Ho JWK; Kirk EP; Pachter N; Chapman G; Winlaw DS; Giannoulatou E; Dunwoodie SL, 2019, 'Identification of clinically actionable variants from genome sequencing of families with congenital heart disease', Genetics in Medicine, vol. 21, pp. 1111 - 1120, http://dx.doi.org/10.1038/s41436-018-0296-x
    Journal articles | 2019
    Eddowes LA; Al-Hourani K; Ramamurthy N; Frankish J; Baddock HT; Sandor C; Ryan JD; Fusco DN; Arezes J; Giannoulatou E; Boninsegna S; Chevaliez S; Owens BMJ; Sun CC; Fabris P; Giordani MT; Martines D; Vukicevic S; Crowe J; Lin HY; Rehwinkel J; McHugh PJ; Binder M; Babitt JL; Chung RT; Lawless MW; Armitage AE; Webber C; Klenerman P; Drakesmith H, 2019, 'Antiviral activity of bone morphogenetic proteins and activins', Nature Microbiology, vol. 4, pp. 339 - 351, http://dx.doi.org/10.1038/s41564-018-0301-9
    Journal articles | 2019
    Ho JWK; Giannoulatou E, 2019, 'Big data: the elements of good questions, open data, and powerful software', Biophysical Reviews, vol. 11, pp. 1 - 3, http://dx.doi.org/10.1007/s12551-019-00500-x
    Journal articles | 2019
    Iglesias AI; Mishra A; Vitart V; Bykhovskaya Y; Höhn R; Springelkamp H; Cuellar-Partida G; Gharahkhani P; Bailey JNC; Willoughby CE; Li X; Yazar S; Nag A; Khawaja AP; Polašek O; Siscovick D; Mitchell P; Tham YC; Haines JL; Kearns LS; Hayward C; Shi Y; van Leeuwen EM; Taylor KD; Wang JJ; Rochtchina E; Attia J; Scott R; Holliday EG; Wong TY; Baird PN; Xie J; Inouye M; Viswanathan A; Sim X; Bonnemaijer P; Rotter JI; Martin NG; Zeller T; Mills RA; Souzeau E; Staffieri SE; Jonas JB; Schmidtmann I; Boutin T; Kang JH; Lucas SEM; Beutel ME; Wilson JF; Donnelly P; Barroso I; Blackwell JM; Bramon E; Brown MA; Casas JP; Corvin A; Deloukas P; Duncanson A; Jankowski J; Markus HS; Mathew CG; Palmer CNA; Plomin R; Rautanen A; Sawcer SJ; Trembath RC; Wood NW; Spencer CCA; Band G; Bellenguez C; Freeman C; Hellenthal G; Giannoulatou E; Pirinen M; Pearson R; Strange A; Su Z; Vukcevic D; Langford C; Hunt SE; Edkins S; Gwilliam R; Blackburn H; Bumpstead SJ; Dronov S; Gillman M; Gray E; Hammond N; Jayakumar A; McCann OT; Liddle J; Potter SC; Ravindrarajah R; Ricketts M; Waller M; Weston P; Widaa S; Whittaker P; Allingham RR; Brilliant MH, 2019, 'Erratum to: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases (Nature Communications, (2018), 9, 1, (1864), 10.1038/s41467-018-03646-6)', Nature Communications, vol. 10, http://dx.doi.org/10.1038/s41467-018-07819-1
    Journal articles | 2019
    Ip E; Chapman G; Winlaw D; Dunwoodie SL; Giannoulatou E, 2019, 'VPOT: A Customizable Variant Prioritization Ordering Tool for Annotated Variants', Genomics, Proteomics and Bioinformatics, vol. 17, pp. 540 - 545, http://dx.doi.org/10.1016/j.gpb.2019.11.001
    Journal articles | 2019
    Kotoula V; Lakis S; Tikas I; Giannoulatou E; Lazaridis G; Papadopoulou K; Manoussou K; Efstratiou I; Papanikolaou A; Fostira F; Vlachos I; Tarlatzis B; Fountzilas G, 2019, 'Pathogenic BRCA1 mutations may be necessary but not sufficient for tissue genomic heterogeneity: Deep sequencing data from ovarian cancer patients', Gynecologic Oncology, vol. 152, pp. 375 - 386, http://dx.doi.org/10.1016/j.ygyno.2018.11.016
    Journal articles | 2019
    Kotoula V; Tsakiri K; Koliou GA; Lazaridis G; Papadopoulou K; Giannoulatou E; Tikas I; Christodoulou C; Chatzopoulos K; Bobos M; Pentheroudakis G; Tsolaki E; Batistatou A; Kotsakis A; Koutras A; Linardou H; Razis E; Res E; Pectasides D; Fountzilas G, 2019, 'Relapsed and De Novo Metastatic HER2-positive Breast Cancer Treated With Trastuzumab: Tumor Genotypes and Clinical Measures Associated With Patient Outcome', Clinical Breast Cancer, vol. 19, pp. 113 - 125.e4, http://dx.doi.org/10.1016/j.clbc.2018.10.014
    Journal articles | 2019
    Lazaridis G; Kotoula V; Vrettou E; Kostopoulos I; Manousou K; Papadopoulou K; Giannoulatou E; Bobos M; Sotiropoulou M; Pentheroudakis G; Efstratiou I; Papoudou-Bai A; Psyrri A; Christodoulou C; Gogas H; Koutras A; Timotheadou E; Pectasides D; Zagouri F; Fountzilas G, 2019, 'Opposite Prognostic Impact of Single PTEN-loss and PIK3CA Mutations in Early High-risk Breast Cancer', Cancer Genomics and Proteomics, vol. 16, pp. 195 - 206, http://dx.doi.org/10.21873/cgp.20125
    Journal articles | 2019
    Monger S; Troup M; Ip E; Dunwoodie SL; Giannoulatou E, 2019, 'Spliceogen: An integrative, scalable tool for the discovery of splice-altering variants', Bioinformatics, vol. 35, pp. 4405 - 4407, http://dx.doi.org/10.1093/bioinformatics/btz263
    Journal articles | 2019
    Wang Q; Kotoula V; Hsu PC; Papadopoulou K; Ho JWK; Fountzilas G; Giannoulatou E, 2019, 'Comparison of somatic variant detection algorithms using Ion Torrent targeted deep sequencing data', BMC Medical Genomics, vol. 12, pp. 181, http://dx.doi.org/10.1186/s12920-019-0636-y
    Journal articles | 2019
    Wang Q; Wang K; Wu W; Giannoulatou E; Ho JWK; Li L, 2019, 'Host and microbiome multi-omics integration: applications and methodologies', Biophysical Reviews, vol. 11, pp. 55 - 65, http://dx.doi.org/10.1007/s12551-018-0491-7
    Journal articles | 2018
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    Szot JO; Cuny H; Blue GM; Humphreys DT; Ip E; Harrison K; Sholler GF; Giannoulatou E; Leo P; Duncan EL; Sparrow DB; Ho JWK; Graham RM; Pachter N; Chapman G; Winlaw DS; Dunwoodie SL, 2018, 'A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data', Circulation. Genomic and precision medicine, vol. 11, pp. e001978, http://dx.doi.org/10.1161/CIRCGEN.117.001978
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    Blue GM; Kirk EP; Giannoulatou E; Sholler GF; Dunwoodie SL; Harvey RP; Winlaw DS, 2017, 'Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide', Journal of the American College of Cardiology, vol. 69, pp. 859 - 870, http://dx.doi.org/10.1016/j.jacc.2016.11.060
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    Armitage AE; Stacey AR; Giannoulatou E; Marshall E; Sturges P; Chatha K; Smith NMG; Huang XJ; Xu XN; Pasricha SR; Lie N; Wu H; Webster C; Prentice AM; Pellegrino P; Williams I; Norris PJ; Drakesmith H; Borrow P, 2014, 'Distinct patterns of hepcidin and iron regulation during HIV-1, HBV, and HCV infections', Proceedings of the National Academy of Sciences of the United States of America, vol. 111, pp. 12187 - 12192, http://dx.doi.org/10.1073/pnas.1402351111
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    Golubchik T; Brueggemann AB; Street T; Gertz RE; Spencer CCA; Ho T; Giannoulatou E; Link-Gelles R; Harding RM; Beall B; Peto TEA; Moore MR; Donnelly P; Crook DW; Bowden R, 2012, 'Pneumococcal genome sequencing tracks a vaccine escape variant formed through a multi-fragment recombination event', Nature Genetics, vol. 44, pp. 352 - 355, http://dx.doi.org/10.1038/ng.1072
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    Jostins L; Ripke S; Weersma RK; Duerr RH; McGovern DP; Hui KY; Lee JC; Philip Schumm L; Sharma Y; Anderson CA; Essers J; Mitrovic M; Ning K; Cleynen I; Theatre E; Spain SL; Raychaudhuri S; Goyette P; Wei Z; Abraham C; Achkar JP; Ahmad T; Amininejad L; Ananthakrishnan AN; Andersen V; Andrews JM; Baidoo L; Balschun T; Bampton PA; Bitton A; Boucher G; Brand S; Büning C; Cohain A; Cichon S; D'Amato M; De Jong D; Devaney KL; Dubinsky M; Edwards C; Ellinghaus D; Ferguson LR; Franchimont D; Fransen K; Gearry R; Georges M; Gieger C; Glas J; Haritunians T; Hart A; Hawkey C; Hedl M; Hu X; Karlsen TH; Kupcinskas L; Kugathasan S; Latiano A; Laukens D; Lawrance IC; Lees CW; Louis E; Mahy G; Mansfield J; Morgan AR; Mowat C; Newman W; Palmieri O; Ponsioen CY; Potocnik U; Prescott NJ; Regueiro M; Rotter JI; Russell RK; Sanderson JD; Sans M; Satsangi J; Schreiber S; Simms LA; Sventoraityte J; Targan SR; Taylor KD; Tremelling M; Verspaget HW; De Vos M; Wijmenga C; Wilson DC; Winkelmann J; Xavier RJ; Zeissig S; Zhang B; Zhang CK; Zhao H; Silverberg MS; Annese V; Hakonarson H; Brant SR; Radford-Smith G; Mathew CG, 2012, 'Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease', Nature, vol. 491, pp. 119 - 124, http://dx.doi.org/10.1038/nature11582
    Journal articles | 2012
    Keller MF; Saad M; Bras J; Bettella F; Nicolaou N; Simón-Sánchez J; Mittag F; Büchel F; Sharma M; Gibbs JR; Schulte C; Moskvina V; Durr A; Holmans P; Kilarski LL; Guerreiro R; Hernandez DG; Brice A; Ylikotila P; Stefánsson H; Majamaa K; Morris HR; Williams N; Gasser T; Heutink P; Wood NW; Hardy J; Martinez M; Singleton AB; Nalls MA; Plagnol V; Sheerin UM; Lesage S; Sveinbjörnsdóttir S; Arepalli S; Barker R; Ben-Shlomo Y; Berendse HW; Berg D; Bhatia K; de Bie RMA; Biffi A; Bloem B; Bochdanovits Z; Bonin M; Brockmann K; Brooks J; Burn DJ; Charlesworth G; Chen H; Chinnery PF; Chong S; Clarke CE; Cookson MR; Cooper JM; Corvol JC; Counsell C; Damier P; Dartigues JF; Deloukas P; Deuschl G; Dexter DT; van Dijk KD; Dillman A; Durif F; Dürr A; Edkins S; Evans JR; Foltynie T; Gao J; Gardner M; Goate A; Gray E; Gústafsson O; Harris C; van Hilten JJ; Hofman A; Hollenbeck A; Holton J; Hu M; Huang X; Huber H; Hudson G; Hunt SE; Huttenlocher J; Illig T; Jónsson PV; Lambert JC; Langford C; Lees A; Lichtner P; Limousin P; Lopez G; Lorenz D; McNeill A; Moorby C; Moore M; Morrison KE; Mudanohwo E; O'Sullivan SS, 2012, 'Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease', Human Molecular Genetics, vol. 21, pp. 4996 - 5009, http://dx.doi.org/10.1093/hmg/dds335
    Journal articles | 2012
    Tsoi LC; Spain SL; Knight J; Ellinghaus E; Stuart PE; Capon F; Ding J; Li Y; Tejasvi T; Gudjonsson JE; Kang HM; Allen MH; McManus R; Novelli G; Samuelsson L; Schalkwijk J; Ståhle M; Burden AD; Smith CH; Cork MJ; Estivill X; Bowcock AM; Krueger GG; Weger W; Worthington J; Tazi-Ahnini R; Nestle FO; Hayday A; Hoffmann P; Winkelmann J; Wijmenga C; Langford C; Edkins S; Andrews R; Blackburn H; Strange A; Band G; Pearson RD; Vukcevic D; Spencer CCA; Deloukas P; Mrowietz U; Schreiber S; Weidinger S; Koks S; Kingo K; Esko T; Metspalu A; Lim HW; Voorhees JJ; Weichenthal M; Wichmann HE; Chandran V; Rosen CF; Rahman P; Gladman DD; Griffiths CEM; Reis A; Kere J; Nnair RP; Franke A; Barker JN; Abecasis GR; Eelder JT; Ttrembath R; Duffin KC; Helms C; Goldgar D; Paschall J; Malloy MJ; Pullinger CR; Kane JP; Gardner J; Perlmutter A; Miner A; Feng BJ; Hiremagalore R; Ike RW; Christophers E; Henseler T; Ruether A; Schrodi SJ; Prahalad S; Guthery SL; Fischer J; Liao W; Kwok P; Menter A; Lathrop GM; Wise C; Begovich AB; Onoufriadis A; Weale ME; Hofer A; Salmhofer W; Wolf P; Kainu K; Saarialho-Kere U; Suomela S; Badorf P, 2012, 'Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity', Nature Genetics, vol. 44, pp. 1341 - 1348, http://dx.doi.org/10.1038/ng.2467
    Journal articles | 2011
    Sawcer S; Hellenthal G; Pirinen M; Spencer CCA; Patsopoulos NA; Moutsianas L; Dilthey A; Su Z; Freeman C; Hunt SE; Edkins S; Gray E; Booth DR; Potter SC; Goris A; Band G; Oturai AB; Strange A; Saarela J; Bellenguez C; Fontaine B; Gillman M; Hemmer B; Gwilliam R; Zipp F; Jayakumar A; Martin R; Leslie S; Hawkins S; Giannoulatou E; D'Alfonso S; Blackburn H; Boneschi FM; Liddle J; Harbo HF; Perez ML; Spurkland A; Waller MJ; Mycko MP; Ricketts M; Comabella M; Hammond N; Kockum I; McCann OT; Ban M; Whittaker P; Kemppinen A; Weston P; Hawkins C; Widaa S; Zajicek J; Dronov S; Robertson N; Bumpstead SJ; Barcellos LF; Ravindrarajah R; Abraham R; Alfredsson L; Ardlie K; Aubin C; Baker A; Baker K; Baranzini SE; Bergamaschi L; Bergamaschi R; Bernstein A; Berthele A; Boggild M; Bradfield JP; Brassat D; Broadley SA; Buck D; Butzkueven H; Capra R; Carroll WM; Cavalla P; Celius EG; Cepok S; Chiavacci R; Clerget-Darpoux F; Clysters K; Comi G; Cossburn M; Cournu-Rebeix I; Cox MB; Cozen W; Cree BAC; Cross AH; Cusi D; Daly MJ; Davis E; De Bakker PIW; Debouverie M; D'Hooghe MB; Dixon K; Dobosi R; Dubois B; Ellinghaus D; Elovaara I; Esposito F, 2011, 'Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis', Nature, vol. 476, pp. 214 - 219, http://dx.doi.org/10.1038/nature10251
    Journal articles | 2010
    Craddock N; Hurles ME; Cardin N; Pearson RD; Plagnol V; Robson S; Vukcevic D; Barnes C; Conrad DF; Giannoulatou E; Holmes C; Marchini JL; Stirrups K; Tobin MD; Wain LV; Yau C; Aerts J; Ahmad T; Andrews TD; Arbury H; Attwood A; Auton A; Ball SG; Balmforth AJ; Barrett JC; Barroso I; Barton A; Bennett AJ; Bhaskar S; Blaszczyk K; Bowes J; Brand OJ; Braund PS; Bredin F; Breen G; Brown MJ; Bruce IN; Bull J; Burren OS; Burton J; Byrnes J; Caesar S; Clee CM; Coffey AJ; Connell JMC; Cooper JD; Dominiczak AF; Downes K; Drummond HE; Dudakia D; Dunham A; Ebbs B; Eccles D; Edkins S; Edwards C; Elliot A; Emery P; Evans DM; Evans G; Eyre S; Farmer A; Ferrier IN; Feuk L; Fitzgerald T; Flynn E; Forbes A; Forty L; Franklyn JA; Freathy RM; Gibbs P; Gilbert P; Gokumen O; Gordon-Smith K; Gray E; Green E; Groves CJ; Grozeva D; Gwilliam R; Hall A; Hammond N; Hardy M; Harrison P; Hassanali N; Hebaishi H; Hines S; Hinks A; Hitman GA; Hocking L; Howard E; Howard P; Howson JMM; Hughes D; Hunt S; Isaacs JD; Jain M; Jewell DP; Johnson T; Jolley JD; Jones IR; Jones LA, 2010, 'Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls', Nature, vol. 464, pp. 713 - 720, http://dx.doi.org/10.1038/nature08979
  • Conference Papers | 2023
    Ballinger ML; Pattnaik S; Mundra PA; Zaheed M; Rath E; Priestley P; Baber J; Ray-Coquard I; Isambert N; Causeret S; van der Graaf WTA; Puri A; Duffaud F; Le Cesne A; Seddon B; Chandrasekar C; Schiffman JD; Brohl AS; James PA; Kurtz JE; Penel N; Myklebost O; Meza-Zepeda LA; Pickett H; Kansara M; Waddell N; Kondrashova O; Pearson JV; Barbour AP; Li S; Nguyen TL; Fatkin D; Graham RM; Giannoulatou E; Green MJ; Kaplan W; Ravishankar S; Copty J; Powell JE; Cuppen E; van Eijk K; Veldink J; Ahn JH; Kim JE; Lor Randall R; Tucker K; Judson I; Sarin R; Ludwig T; Genin E; Deleuze JF; Haber M; Marshall G; Cairns MJ; Blay JY; Thomas DM, 2023, 'Heritable defects in telomere and mitotic function selectively predispose to sarcomas', in Science, WILEY, pp. 253 - 260, http://dx.doi.org/10.1126/science.abj4784
    Preprints | 2022
    Bernkopf M; Abdullah UB; Bush SJ; Wood K; Ghaffari S; Giannoulatou E; Koelling N; Maher GJ; Thibault LM; Williams J; Blair EM; Kelly FB; Bloss A; Burkitt-Wright E; Canham N; Deng AT; Dixit A; Eason J; Elmslie F; Gardham A; Hay E; Holder M; Homfray T; Hurst JA; Johnson D; Jones WD; Kini U; Kivuva E; Kumar A; Lees MM; Leitch HG; Morton JEV; Németh AH; Ramachandrappa S; Saunders K; Shears DJ; Side L; Splitt M; Stewart A; Stewart H; Suri M; Clouston P; Davies RW; Wilkie AOM; Goriely A, 2022, The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation, http://dx.doi.org/10.1101/2022.07.26.501520
    Preprints | 2017
    International Multiple Sclerosis Genetics Consortium ; Patsopoulos NA; Baranzini SE; Santaniello A; Shoostari P; Cotsapas C; Wong G; Beecham AH; James T; Replogle J; Vlachos I; McCabe C; Pers T; Brandes A; White C; Keenan B; Cimpean M; Winn P; Panteliadis IP; Robbins A; Andlauer TFM; Zarzycki O; Dubois B; Goris A; Sondergaard B; Sellebjerg F; Sorensen S; Ullum H; Thoerner W; Saarela J; Rebeix C; Damotte V; Fontaine B; Noel G; Lathrop M; Vukusik S; Berthele A; Biberacher V; Buck D; Gasperi C; Graetz C; Grummel V; Hemmer B; Hoshi M; Knier B; Korn T; Lill CM; Luessi F; Mühlau M; Zipp F; Dardiotis E; Agliardi C; Amoroso A; Barizzone N; Benedetti MD; Bernardinelli L; Cavalla P; Clarelli F; Comi G; Cusi D; Esposito F; Ferrè L; Galimberti D; Guaschino C; Leone MA; Martinelli V; Moiola L; Salvetti M; Sorosina M; Vecchio D; Zauli A; Santoro S; Zuccalà M; Mescheriakova J; Duijn V; Bos SD; Celius EG; Spurkland A; Comabella M; Montalban X; Alfredsson L; Bomfim I; Gomez-Cabrero D; Hillert J; Jagodic M; Lindén M; Piehl F; Jelčić I; Martin R; Sospedra M; Baker A; Ban M; Hawkins C; Hysi P; Kalra S; Karpe F; Khadake J; Lachance G; Molyneux P; Neville M; Thorpe J; Bradshaw E; Caillier SJ; Calabresi P; Cree BAC; Cross A; Davis M; Bakker PWID; Delgado S; Dembele M; Edwards K; Fitzgerald K; Frohlich IY; Gourraud PA; Haines JL; Hakonarson H; Kimbrough D; Isobe N; Konidari I; Lathi E; Lee MH; Li T; An D; Zimmer A; Lo A; Madireddy L; Manrique CP; Mitrovic M; Olah M; Patrick E; Pericak-Vance MA; Piccio L; Schaefer C; Weiner H; Lage K; Compston A; Hafler D; Harbo HF; Hauser SL; Stewart G; D’Alfonso S; Hadjigeorgiou G; Taylor B; Barcellos LF; Booth D; Hintzen R; Kockum I; Martinelli-Boneschi F; McCauley JL; Oksenberg JR; Oturai A; Sawcer S; Ivinson AJ; Olsson T; Jager PLD; Barclay M; Peyrin-Biroulet L; Chamaillard M; Colombe J-F; Cottone M; Croft A; D’Incà R; Halfvarson J; Hanigan K; Henderson P; Hugot J-P; Karban A; Kennedy N; Khan MA; Lémann M; Levine A; Massey D; Milla M; Montgomery G; Evelyn Ng SM; Oikonomou I; Peeters H; Proctor D; Rahier J-F; Roberts R; Rutgeerts P; Seibold F; Stronati L; Taylor K; Törkvist L; Ublick K; Limbergen JV; Gossum AV; Vatn M; Zhang H; Zhang W; Australia and New Zealand IBDGC ; Belgium Genetic Consortium ; Initiative on Crohn and Colitis ; NIDDK IBDGC ; United Kingdom IBDGC ; Wellcome Trust Case Control Consortium , 2017, The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility, http://dx.doi.org/10.1101/143933

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.