My background is in human genomics, 群体遗传学, precision medicine and leading large-scale human genomics studies. I joined 澳门在线赌城娱乐 in August 2017 and my role as Vice President and Head of Genome Analytics and Bioinformatics for 澳门在线赌城娱乐’s Centre for Genomics Research (CGR) involves leading the design and implementation of human genomic studies as part of 澳门在线赌城娱乐’s 基因组计划. My team applies human genetics to inform and drive novel target discovery, 目标确认, 安全目标, precision medicine and late-stage support.

在此之前, I was a Senior Research Fellow and Group Leader in Computational Genomics within the Department of Medicine at the University of Melbourne, 澳大利亚. I was awarded a PhD in Bioinformatics and Biostatistics from the Faculty of Medicine, Dentistry & Health Sciences at the University of Melbourne in 2011.

在我的职业生涯中, I have made important contributions to human and population genomics, including key contributions to the science of target discovery and variant interpretation. I have also secured prestigious funding from numerous international organisations and regularly publish my work in highly regarded journals.

Through large-scale 群体遗传学 and multi-omics, we are discovering novel targets, understanding disease mechanisms, and implementing precision medicine strategies across early R&D.

奴隶Petrovski Vice President, Head of Genome Analytics and Bioinformatics, R&D

Scrip 奖, Best Partnership Alliance, 2020

Amgen, 澳门在线赌城娱乐, GSK and Janssen for the UK Biobank Whole Genome Sequencing Project

电流的作用

Vice President, Head of Genome Analytics and Bioinformatics, R&D

2020

Invited speaker at AWS Re:Invent Conference

2018

Panel speaker at Bloomberg Data for Good Exchange

2018

Completed the initial build of the 基因组计划 capabilities at 澳门在线赌城娱乐, to drive human genetics-based novel target discovery, 目标确认, 安全目标, precision medicine and late-stage support

特色的出版物

Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.

Dhindsa R.S.马特森,J.解析:选A. Petrovski,年代. 等. Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis. Commun杂志 4, 392 (2021). http://doi.org/10.1038/s42003-021-01910-y

Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning.

Vitsios D.R.S.米德尔顿,L.彼得罗夫斯基,S. 等. Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning. Nat Commun 12, 1504 (2021). http://doi.org/10.1038/s41467-021-21790-4

Rare-variant collapsing analyses for complex traits: guidelines and applications.

Povysil G.彼得罗夫斯基,S.霍斯特克,J. 等. Rare-variant collapsing analyses for complex traits: guidelines and applications. Nat Rev Genet 20, 747–759 (2019). http://doi.org/10.1038/s41576-019-0177-4

Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning.

维齐奥斯D,彼得罗夫斯基S. Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning. 我是热内吗. 2020年5月7日;106(5):659-678. doi: 10.1016/j.ajhg.2020.03.012.

Variant Interpretation and Genomic Medicine.

卡斯,K.戈尔茨坦,D.阿加瓦尔,V. 彼得罗夫斯基,S. (2019). Variant Interpretation and Genomic Medicine. In Handbook of Statistical Genomics (eds D. 秃顶,我. 毛奇和J. Marioni) http://doi.org/10.1002/9781119487845.ch27

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J, Silk M, Wang Q, 等. Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation. 基因组Res. 2017;27(10):1715-1729. doi: 10.1101/gr.226589.117

Diagnostic Utility of Exome Sequencing for Kidney Disease.

Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, 等. Diagnostic Utility of Exome Sequencing for Kidney Disease. [英]医学. 2019年1月10日;38 (2):142-151. doi: 10.1056 / NEJMoa1806891.

An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.

Petrovski S, Todd JL, Durheim MT, 等. An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. 我是急救医生吗. 2017年7月1日;196(1):82-93. doi: 10.1164 / rccm.201610-2088OC. PMID: 28099038; PMCID: PMC5519963.

Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine.

彼得罗夫斯基S,戈尔茨坦DB. Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine. 基因组医学杂志. 2016年7月14日;17(1):157. doi: 10.1186/s13059-016-1016-y. PMID: 27418169; PMCID: PMC4944427.

Phenomics and the interpretation of personal genomes.

彼得罗夫斯基S,戈尔茨坦DB. Phenomics and the interpretation of personal genomes. 科学与医学. 2014年9月17日;6(254):254fs35. doi: 10.1126 / scitranslmed.3010272. PMID: 25232173.