Head, Bioinformatics and Cellular Genomics Lab,
St Vincent's Institute of Medical Research, Melbourne. Stats, AI/ML, bioinformatics, genomics, single-cell.
https://www.svi.edu.au/researchers/dr-davis-mccarthy/
Davis McCarthy
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Today, she’s part of a team working on lab-grown skin that could transform recovery from severe wounds.
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An international team, including Associate Professor Davis McCarthy and colleagues, has developed a breast screening artificial intelligence (AI) tool that estimates a woman’s risk of developing breast cancer more accurately than current methods.
Find out more: www.svi.edu.au/news-events/...
Every discovery begins with a bright spark✨
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Happy to share new manuscript I completed with @ee-reh-neh.bsky.social & @davisjmcc.bsky.social back in Melbourne. The work originally conceived by @ijbeasley.bsky.social focuses on how we can reconcile and meta-analyse eQTL studies across studies cohorts and ancestries. doi.org/10.64898/202...
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🎓 PhD scholarship
We are recruiting a PhD student to develop new methods for analysing spatial omics data at the University of Sydney, cosupervised by @shazanfar.bsky.social and me. Ideal for students with backgrounds in statistics, data science, computer science or bioinformatics
Apply by 18 Jan
I have an opening for a staff scientist or bioinformatician in my group at the Sanger Institute (closing date 24 March). Our current projects focus on disentangling rare and common variant contributions to rare neurodevelopmental conditions and to neurodevelopmental and perinatal traits. 1/2
Finally, today's offering! www.biorxiv.org/content/10.6...
This began life as a very different project which failed because we couldn't agree on defining eqtl sharing across cohorts. So two young members of the lab dug deeply into this - first @ijbeasley.bsky.social, then @patrickgibbs.bsky.social
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Davis McCarthy
Dr Monique Ryan
Australian Academy of Science
The phenotypic effects of germline variants are often mediated through gene regulation. Expression quantitative trait loci (eQTLs) are genetic variants associated with changes in gene expression. Understanding how eQTLs vary across populations is essential for characterising the genetic and regulatory drivers of trait diversity. Meta-analysing eQTL studies from multiple populations enables more robust detection of eQTLs and can reveal regulatory mechanisms shaped by population-specific environmental or ancestry-related factors. However, across the multi-ancestry eQTL literature, a wide range of methods have been used to quantify eQTL portability across ancestry groups. Because different studies employ different portability metrics, it is challenging to form a coherent view of the regulatory landscape across populations. In this work, we analyse eQTL summary statistics from ten datasets matched on tissue type and sequencing technology. We compare portability metrics used previously and show that they can yield markedly different patterns of apparent regulatory conservation or divergence. We then examine the statistical determinants of portability across metrics and demonstrate that sample size, minor allele frequency, and linkage disequilibrium are major drivers of the observed differences in eQTL portability across studies. These findings highlight that differences in statistical power stemming from factors such as population size and allele frequency must be accounted for when evaluating eQTL portability. To address this issue, we introduce a new approach designed to correct for these factors when calling eQTL portability. Finally, we show that empirical Bayes multivariate adaptive shrinkage provides a powerful framework for meta-analysing multiple eQTL studies, with the ability to pool signals across populations to produce more robust effect-size estimates within each population. ### Competing Interest Statement The authors have declared no competing interest. National Health and Medical Research Council, https://ror.org/011kf5r70, Ideas Grant 2020501, Investigator Grant 1195595
Finally, today's offering! www.biorxiv.org/content/10.6...
This began life as a very different project which failed because we couldn't agree on defining eqtl sharing across cohorts. So two young members of the lab dug deeply into this - first @ijbeasley.bsky.social, then @patrickgibbs.bsky.social
www.biorxiv.org
Registration for MSS26 in Melbourne will close next Monday - we still have a few tickets available, and an amazing line-up of speakers across all areas of variant effects work, so if you were on the fence, check out our program and then smash that "Register now" button!
www.mss2026.org
Irene Gallego Romero
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