Slave Petrovski

A minimal role for synonymous variation in human disease.

Ryan S Dhindsa, Quanli Wang, Dimitrios Vitsios, Oliver S Burren, Fengyuan Hu, James E DiCarlo, Leonid Kruglyak, Daniel G MacArthur, Matthew E Hurles, Slavé Petrovski

Journal article  |  2022  |  Am J Hum Genet

Synonymous mutations change the DNA sequence of a gene without affecting the amino acid sequence of the encoded protein. Although ..

DrugnomeAI is an ensemble machine-learning framework for predicting druggability of candidate drug targets.

Arwa Raies, Ewa Tulodziecka, James Stainer, Lawrence Middleton, Ryan S Dhindsa, Pamela Hill, Ola Engkvist, Andrew R Harper, Slavé Petrovski, Dimitrios Vitsios

Journal article  |  2022  |  Commun Biol

The druggability of targets is a crucial consideration in drug target selection. Here, we adopt a stochastic semi-supervised ML fr..

Unravelling Bile Viromes of Free-Range Laying Chickens Clinically Diagnosed with Spotty Liver Disease: Emergence of Many Novel Chaphamaparvoviruses into Multiple Lineages.

Subir Sarker, Saranika Talukder, Arif Anwar, Thi Thu Hao Van, Steve Petrovski

Journal article  |  2022  |  Viruses

Spotty liver disease (SLD) causes substantial egg production losses and chicken mortality; therefore, it is a disease that concern..

Human genetics uncovers MAP3K15 as an obesity-independent therapeutic target for diabetes

Abhishek Nag, Ryan S Dhindsa, Jonathan Mitchell, Chirag Vasavda, Andrew R Harper, Dimitrios Vitsios, Andrea Ahnmark, Bilada Bilican, Katja Madeyski-Bengtson, Bader Zarrouki, Anthony W Zoghbi, Quanli Wang, Katherine R Smith, Jesus Alegre-Diaz, Pablo Kuri-Morales, Jaime Berumen, Roberto Tapia-Conyer, Jonathan Emberson, Jason M Torres, Rory Collins, et al.

Journal article  |  2022  |  SCIENCE ADVANCES

We performed collapsing analyses on 454,796 UK Biobank (UKB) exomes to detect gene-level associations with diabetes. Recessive car..

Uncovering variable neoplasms between ATM protein-truncating and common missense variants using 394 694 UK Biobank exomes.

Xiao Jiang, Amanda O'Neill, Katherine R Smith, Zhongwu Lai, Keren Carss, Quanli Wang, Slavé Petrovski

Journal article  |  2022  |  Genes Chromosomes Cancer

As an essential regulator of DNA damage, ataxia-telangiectasia mutated (ATM) gene has been widely studied in oncology. However, th..

Cancer-driving mutations are enriched in genic regions intolerant to germline variation

Dimitrios Vitsios, Ryan S Dhindsa, Dorota Matelska, Jonathan Mitchell, Xuequing Zou, Joshua Armenia, Fengyuan Hu, Quanli Wang, Ben Sidders, Andrew R Harper, Slave Petrovski

Journal article  |  2022  |  SCIENCE ADVANCES

Large reference datasets of protein-coding variation in human populations have allowed us to determine which genes and genic subre..

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis

Siddhartha P Kar, Pedro M Quiros, Muxin Gu, Tao Jiang, Jonathan Mitchell, Ryan Langdon, Vivek Iyer, Clea Barcena, MS Vijayabaskar, Margarete A Fabre, Paul Carter, Slave Petrovski, Stephen Burgess, George S Vassiliou

Journal article  |  2022  |  NATURE GENETICS

Clonal hematopoiesis (CH), the clonal expansion of a blood stem cell and its progeny driven by somatic driver mutations, affects o..

Potential role of regulatory DNA variants in modifying the risk of severe cutaneous reactions induced by aromatic anti-seizure medications

Kerry A Mullan, Alison Anderson, Yi-Wu Shi, Jia-Hong Ding, Ching-Ching Ng, Zhibin Chen, Larry Baum, Stacey Cherny, Slave Petrovski, Pak C Sham, Kheng-Seang Lim, Wei-Ping Liao, Patrick Kwan

Journal article  |  2022  |  EPILEPSIA

OBJECTIVE: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe cutaneous adverse drug reactions. Antise..

Association of ultra-rare coding variants with genetic generalized epilepsy: A case-control whole exome sequencing study

Mahmoud Koko, Joshua E Motelow, Kate E Stanley, Dheeraj R Bobbili, Ryan S Dhindsa, Patrick May

Journal article  |  2022  |  EPILEPSIA

OBJECTIVE: We aimed to identify genes associated with genetic generalized epilepsy (GGE) by combining large cohorts enriched with ..

Genetic Profile of Endotoxemia Reveals an Association With Thromboembolism and Stroke.

Jaakko Leskelä, Iiro Toppila, Mari-Anne Härma, Teemu Palviainen, Aino Salminen, Niina Sandholm, Milla Pietiäinen, Elisa Kopra, Jean-Paul Pais de Barros, undefined FinnGen, Mariann I Lassenius, Anmol Kumar, Valma Harjutsalo, Kajsa Roslund, Carol Forsblom, Anu Loukola, Aki S Havulinna, Laurent Lagrost, Veikko Salomaa, Per-Henrik Groop, et al.

Journal article  |  2021  |  J Am Heart Assoc

Background Translocation of lipopolysaccharide from gram-negative bacteria into the systemic circulation results in endotoxemia. I..