I have an extensive academic background in human genomics, population genetics, precision medicine and leading large-scale human genomics studies. 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.
My role as Vice President and Head of Genome Analytics and Bio资讯rmatics for AstraZeneca’s Centre for Genomics Research (CGR) involves using my experience to design and coordinate the human genomic studies of the CGR and the company’s broader Genomics Initiative.
I was awarded a PhD in Bio资讯rmatics 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 strive towards matching patients with treatments most likely to help.
Genic intolerance to functional variation and the interpretation of personal genomes. LOL下注官方合作平台
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.LOL下注官方合作平台
J Traynelis, M Silk, Q Wang, S Berkovic, L Liu, D Ascher, D Balding, S Petrovski, Genome Research doi: 10.1101/gr.226589.117
Variant Interpretation and Genomic Medicine.LOL下注官方合作平台
K Carss, D Goldstein, V Aggarwal, S Petrovski, Chapter 27, Handbook of Statistical Genetics, 4th Edition, Wiley (2019).
The intolerance of regulatory sequence to genetic variation predicts gene dosage sensitivity.LOL下注官方合作平台
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.LOL下注官方合作平台
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
Diagnostic Utility of Exome Sequencing for Kidney Disease.LOL下注官方合作平台
EE Groopman, M Marasa, S Cameron-Christie, S Petrovski, V Aggarwal et al, New England Journal of Medicine. 2018 (10.1056/NEJMoa1806891)
Sequencing studies in human genetics: design and interpretation.LOL下注官方合作平台
DB Goldstein, A Allen, J Keebler, EH Margulies, S Petrou, S Petrovski, S Sunyaev.
Nature Reviews Genetics 14 (7), 460
Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine.LOL下注官方合作平台
S Petrovski, DB Goldstein
Genome Biology 17 (1), 157
Phenomics and the interpretation of personal genomes.LOL下注官方合作平台
S Petrovski, DB Goldstein
Science Translational Medicine 6 (254), 254fs35-254fs35
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