Computational Genomics

Research Overview

Research in the Petrovski group explores the use of computational genetic approaches to study human disease. Current research interests include: interpreting genetic variation, leveraging human standing genetic variation to understand typical patterns of genetic variation in the human population, developing methods for design and interpretation of genomic studies and facilitating studies from discovery to translational genetics. There are multile projects currently underway that are spread across various fields of interest, including: population genetics, Mendelian disease, machine learning, undiagnosed disorders, epilepsy genetics and epilepsy treatment and outcomes.




  • Professor David B. Goldstein, Institute for Genomic Medicine (IGM), Columbia University
  • Professor Andrew S. Allen, Department of Biostatistics and Bioinformatics, Duke University
  • Professor Mike Johnson, Centre for Clinical Translation at the Division of Brain Sciences, Imperial College London
  • Professor Stephen Traynelis, Department of Pharmacology, Emory University
  • Mr Quanli Wang, Staff Bioinformatics Engineer, Becton & Dickinson Genomics


  • Professor David Balding, Centre for Systems Genomics, School of Mathematics and Statistics, University of Melbourne
  • Professor Samuel F. Berkovic, Department of Medicine, Austin Health, University of Melbourne
  • Professor Jozef Gecz, Neurogenetics Research Program, The University od Adelaide
  • Professor Terence J O'Brien, Department of Medicine, Royal Melbourne Hospital, University of Melbourne
  • Professor Steven Petrou, Florey Institute
  • Professor Ingird Scheffer, Department of Medicine, Austin Health, University of Melbourne


  • NHMRC Early Career Fellowship  

Research Opportunities

This research project is available to PhD students to join as part of their thesis.
Please contact the Research Group Leader to discuss your options.

Research Publications

  • Petrovski S and Goldstein DB. Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine. Genome Biology 2016; 17:157.
  • Epi4K Consortium. De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies. American Journal of Human Genetics 2016; 99(2), 287–298.
  • Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, et al. Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia and seizures. American Journal of Human Genetics 2016; 98 (5), 1001-1010.
  • Petrovski S, Parrott RE, Roberts JL, Huang H, et al. Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. Journal of Clinical Immunology 2016: 1-10.
  • Gussow AB, Petrovski S, Wang Q, Allen AS, Goldstein DB. The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes. Genome Biology 2016; doi: 10.1186/s13059-016-0869-4.
  • Halvorsen M, Petrovski S, Shellhaas R, Tang Y, Crandall L, Goldstein DB, Devinsky O. Mosaic mutations in early-onset genetic diseases. Genetics in Medicine 2015 Dec 30. doi: 10.1038/gim.2015.155.
  • Bagnall RD, Crompton DE, Petrovski S, Lam L, et al. Exome‐based analysis of cardiac arrhythmia, respiratory control and epilepsy genes in sudden unexpected death in epilepsy. Annals of Neurology  2015 (DOI: 10.1002/ana.24596).
  • Petrovski S, Gussow AB, Wang Q, Halvoersen M, Han Y, Weir WH, Allen AS, Goldstein DB. The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity. PLoS Genetics 2015 (Sep 2;11(9):e1005492 ; doi: 10.1371/journal.pgen.1005492).
  • Petrovski S, Shashi V, Schoch K, Petrou S, et al. Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition. Molecular Case Studies 2015 (doi:10.1101/mcs.a000257).
  • Shashi V, Petrovski S, Schoch K, Crimian R, et al. Sustained Therapeutic Response to Riboflavin in a Child with a Progressive Neurological Condition, Diagnosed by Whole Exome Sequencing. Molecular Case Studies  2015 (doi: 10.1101/mcs.a000265).
  • Williams C, Jiang YH, Shashi V, Crimian R, Schoch K, McHale D, Goldstein DB, Petrovski S. Additional Evidence that PGAP1 Complete Loss of Function Causes Autosomal Recessive Global Developmental Delay and Encephalopathy. Clinical Genetics  2015 (doi: 10.1111/cge.12581).
  • Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, et al. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science 2015 Vol. 347 no. 6229 pp. 1436-1441
  • Zhu X, Petrovski S, Xie P, Ruzzo EK, et al. Whole exome sequencing in undiagnosed genetic diseases: Interpreting 119 trios. Genetics in Medicine (2015) 17,774–781.
  • EuroEPINOMICS-RES Consortium, Epilepsy Phenome Genome Project, and Epi4K Consortium. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. American Journal of Human Genetics. 2014 Oct 2;95(4):360-70. doi: 10.1016/j.ajhg.2014.08.013. Epub 2014 Sep 25
  • Petrovski S, Goldstein DB. Phenomics and the interpretation of personal genomics. Sci Transl Med. 2014 Sep 17;6(254):254fs35. doi: 10.1126/scitranslmed.3010272
  • International League Against Epilepsy Consortium on Complex Epilepsies. Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. Lancet Neurol. 2014 Sep;13(9):893-903. doi: 10.1016/S1474-4422(14)70171-1. Epub 2014 Jul 30.
  • Zhu X, Need AC, Petrovski S, Goldstein DB. One gene, many neuropsychiatric diseases: lessons from Mendelian diseases. Nature Neuroscience. 2014 Jun;17(6):773-781
  • Speed D, Hoggart C, Petrovski S, Tachmazidou I, et al. Genetic determinants for remission of seizures in newly treated epilepsy: a prospective cohort genome-wide association study. Hum Mol Genet. 2014 Jan 1;23(1):247-258 (doi: 10.1093/hmg/ddt403)
  • Petrovski S, Wang Q, Heinzen, EL, Allen AS, Goldstein DB. Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes. PLOS Genetics 2013; 9(8): e1003709;  (doi:10.1371/journal.pgen.1003709).
  • Epi4K Consortium & Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature. 2013; Sep 12;501(7466):217-221. (doi:10.1038/nature12439)
  • Goldstein DB, Allen A, Keebler J, Margulies E, Petrou S, Petrovski S, Sunyaev S. Sequencing studies in human genetics: design and interpretation. Nature Review Genetics 2013 14,460–470; doi:10.1038/nrg3455

Find Slave Petrovski on PubMed and Google Scholar!

Research Projects

Currently no project details available

Research Themes


Areas of Excellence

Neuroscience and Psychiatry

Key Contact

For further information about this research, please contact
Dr Slave Petrovski.

Department / Centre

Medicine and Radiology