@AlexTokolyi

Medical genomics PhD student @SangerInstitute @Cambridge_Uni from 🇦🇺

 Cambridge, UK
alextokolyi.com/
Joined December 2016
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Very excited to share the first manuscript out of my PhD presenting our analysis into the genetic architecture of gene expression and splicing using blood RNA-seq of 4,732 blood donors from the INTERVAL study. (1/7) medrxiv.org/content/10.1101/…

Genetic determinants of blood gene expression and splicing and their contribution to molecular...

The biological mechanisms through which most non-protein-coding genetic variants affect disease risk are unknown. To investigate the gene-regulatory cascades that ensue from these variants, we mapped...

medrxiv.org
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Melioidosis kills 40% of cases, yet diagnosis remains a challenge. Many patients died before the arrival of a culture-confirmed diagnosis. With @PWongpalee and @TaoUttamapinant, we developed and validated a rapid test for melioidosis👇thelancet.com/journals/lanmi…
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What if we could inducibly create thousands of structural variants and ecDNAs in human cells and see which ones survive? biorxiv.org/content/10.1101/… I’m excited to share our story on scrambling the human genome by combining prime editing, repetitive elements, and recombinases. A🧵
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I'd like to give a huge shout-out to @ee_davenport as well for being an amazing, passionate, & supportive supervisor throughout my PhD
Emma Davenport@ee_davenport13 Dec 2023
Congratulations Dr @AlexTokolyi! First PhD student of davenportlab.com to complete (can you tell I'm just a little bit proud). Huge thanks to his examiners (@kauralasoo and John Whittaker) and our team and collaborators for all their support.
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All of these results are publicly available to browse and explore on our portal at: intervalrna.org.uk/
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I would like to give a huge thank-you to my supervisors and senior authors @ee_davenport, @minouye271 & @dirk_paul, and the lab at the @sangerinstitute for their support throughout this project
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Excited to share the first preprint of my PhD @sangerinstitute looking into the prevalence and genetic mechanisms of gene misexpression in 4,568 whole blood RNA-seq samples from the INTERVAL cohort. biorxiv.org/cgi/content/shor…
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Excited to share our work on targeting Cas13 to splice junctions for isoform-specific RNA knockdown. We learned a lot about the experimental design, assessment and downstream analysis of this approach. Phenomenal effort from all involved! biorxiv.org/content/10.1101/…

Cas13d-mediated isoform-specific RNA knockdown with a unified computational and experimental toolbox

Alternative splicing is an essential mechanism for diversifying proteins, in which mature RNA isoforms produce proteins with potentially distinct functions. Two major challenges in characterizing the...

biorxiv.org
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Today I lodged a Notice of Motion calling for a judicial inquiry into Media Diversity in Australia. (Seconded by @Mon4Kooyong)
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Pleased to announce our latest work is now live at Nature Metabolism (@natmetabolism), in which we show polygenic risk scores (PRS) can be used to identify novel and causal proteins underlying disease risk. nature.com/articles/s42255-0… Thread 1/9
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1/We are thrilled to present our recent work in Genes & Health @EastLondonGenes, an amazing community-based cohort of British Pakistani and Bangladeshi individuals with linked electronic health record data: medrxiv.org/content/10.1101/…

Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakist...

Background Individuals with South Asian ancestry have higher risk of heart disease than other groups in Western countries; however, most genetic research has focused on European-ancestry (EUR)...

medrxiv.org
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Happy to announce that our preprint (my first one 😁) is finally out! We assessed how unwanted technical variations affect microbiome data, and suggest a novel computational batch correction tool, RUV-III-NB. @phylogeo @minouye271 @SJPamp & Agus Salim biorxiv.org/content/10.1101/…

Assessing and removing the effect of unwanted technical variations in microbiome data

Varying technologies and experimental approaches used in microbiome studies often lead to irreproducible results due to unwanted technical variations. Such variations, often unaccounted for and of...

biorxiv.org
bioRxiv@biorxivpreprint22 May 2021
Assessing and removing the effect of unwanted technical variations in microbiome data biorxiv.org/cgi/content/shor… #bioRxiv
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🎉The new and improved CoVariants.org is here! 🎉 We're hoping to make this a one-stop location to track not only the 'headline' variants, but many different #SARSCoV2 mutations & variants that scientists are keeping an eye on. Let's take a tour of the site! 1/12
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