I have an extensive academic background in human genomics, population genetics, precision medicine and genome analytics. I joined AstraZeneca in August 2017 from the University of Melbourne, Australia, where I was a Senior Research Fellow and Group Leader in Computational Genomics within the Department of Medicine.
I have held positions as a Research Scholar at the Institute for Genomic Medicine, Columbia University (USA) in 2015, and as a Postdoctoral Research Fellow at the Center for Human Genome Variation, Duke University (USA) from 2012-2014.
My role as Vice-president and Head of Genome Analytics for the Centre for Genomics Research (CGR) involves using my experience to design and coordinate the quantitative genomic analyses of the CGR and the broader Genomics Initiative.
I was awarded a PhD in Bioinformatics and Biostatistics from the Faculty of Medicine, Dentistry & Health Sciences at the University of Melbourne in 2011, and over my academic career I have made important contributions to quantitative genomic analyses and the science of variant interpretation.
I have also secured prestigious funding from numerous international organisations and regularly publish my work in highly regarded journals.
Through optimising Precision Molecular Diagnostics, we can use clinically relevant genetic findings to facilitate target identification and matching patients with treatments most likely to help.
I want us to not restrict our thinking to what we expect to find and allow for surprises.
Genic intolerance to functional variation and the interpretation of personal genomes.
S Petrovski, Q Wang, EL Heinzen, AS Allen, DB Goldstein,
PLOS Genetics 9 (8), e1003709
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
J Traynelis, M Silk, Q Wang, S Berkovic, L Liu, D Ascher, D Balding, S Petrovski, Genome Research doi: 10.1101/gr.226589.117
The intolerance of regulatory sequence to genetic variation predicts gene dosage sensitivity.
S Petrovski, AB Gussow, Q Wang, M Halvorsen, Y Han, WH Weir, ...
PLOS Genetics 11 (9), e1005492
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.
S Petrovski, JL Todd, MT Durheim, Q Wang, JW Chien, FL Kelly, C Frankel, …
American Journal of Respiratory and Critical Care Medicine 196(1): 82-93
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, ...
Science 347 (6229), 1436-1441
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
Epi4K Consortium and EPGP
The Lancet Neurology 16 (2), 135-143
Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.
RD Bagnall, DE Crompton, S Petrovski, L Lam, C Cutmore, SI Garry, ...
Annals of Neurology 79 (4), 522-534
Sequencing studies in human genetics: design and interpretation.
DB Goldstein, A Allen, J Keebler, EH Margulies, S Petrou, S Petrovski, S Sunyaev.
Nature Reviews Genetics 14 (7), 460
De novo mutations in the classic epileptic encephalopathies.
Epi4K and EPGP Investigators
Nature 501 (7466), 217
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
X Zhu, S Petrovski, P Xie, EK Ruzzo, YF Lu, KM McSweeney, B Ben-Zeev, ...
Genetics in Medicine 17 (10), 774
Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine.
S Petrovski, DB Goldstein
Genome Biology 17 (1), 157
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.
S Petrovski, V Shashi, S Petrou, K Schoch, KM McSweeney, RS Dhindsa, ...
Molecular Case Studies 1 (1), a000257
Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures.
S Petrovski, S Küry, CT Myers, K Anyane-Yeboa, B Cogné, M Bialer, F Xia, ...
The American Journal of Human Genetics 98 (5), 1001-1010
Phenomics and the interpretation of personal genomes.
S Petrovski, DB Goldstein
Science Translational Medicine 6 (254), 254fs35-254fs35
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
EPGP, EuroEPINOMICS-RES Consortium, Epi4K Consortium
The American Journal of Human Genetics 95 (4), 360-370
Inherited DOCK2 deficiency in patients with early-onset invasive infections.
K Dobbs, C Domínguez Conde, SY Zhang, S Parolini, M Audry, J Chou, ...
New England Journal of Medicine 372 (25), 2409-2422
Molecular mechanism of disease-associated mutations in the pre-M1 helix of NMDA receptors and potential rescue pharmacology.
KK Ogden, W Chen, SA Swanger, MJ McDaniel, LZ Fan, C Hu, ...
PLOS Genetics 13 (1), e1006536
Mechanistic insight into NMDA receptor dysregulation by rare variants in the GluN2A and GluN2B agonist binding domains.
SA Swanger, W Chen, G Wells, PB Burger, A Tankovic, S Bhattacharya, ...
The American Journal of Human Genetics 99 (6), 1261-1280
Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease.
MR Johnson, K Shkura, SR Langley, A Delahaye-Duriez, P Srivastava, ...
Nature Neuroscience 19 (2), 223-232
NHMRC Career Development Fellowship
Awarded in 2016
NHMRC CJ Martin Fellowship
Awarded in 2012
American Australian Association Fellow
Awarded in 2009
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