Carles Foguet

@cfoguet.bsky.social

Català vivint a UK. Researcher at the BHF Cardiovascular Epidemiology Unit at Cambridge University. https://cfoguet.github.io/

@omicspred.bsky.social centralises imputation models from multiple resources (PredictDB, Zenodo, INTERVAL/UKB-trained scores) and multiple omics layers (transcriptomics, metabolomics, proteomics) to make analyses easier and more comprehensive, e.x. this multi-ancestry multi-omics MVP PheWAS!

Bild

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...

Power is a major confounder in the analysis of cross-ancestry 'portability' in human eQTLs

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

doi.org

Irene Gallego Romero@ee-reh-neh.bsky.social · 6mo ago

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

Yesterday the UK Government published a data provision notice paving the way for coded GP data in England to be shared with consented cohorts like UK Biobank. Hear from Val, a UK Biobank participant on her hopes for the future.

Federal law enforcement agents shot and killed a man in Minneapolis on Jan. 24 according to local police officials. DHS told Fox News that the man was “armed with a gun”. A video of the shooting appears to show that a gun was taken from the man before the first shot was fired. x.com/BillMelugin_...

Bild

Wish it was easier to calculate PGS in trusted research environments (TRE) like DNAnexus or the All of Us workbench? Us to! We've been hard at work on a new version of pgsc_calc to make it more scalable in those TREs! Introducing pgsc_calc v3.0.0-alpha.1: pgsc-calc.readthedocs.io/en/v3-alpha.1/

pgsc_calc: a reproducible workflow to calculate polygenic scores | PGS Catalog Calculator documentation.

The `pgsc_calc` workflow makes it easy to calculate a polygenic score

buff.ly

If I’m understanding this correctly, X is owned by a white nationalist who pays poor people of color in developing countries to pretend to be working class white Americans to scare other white Americans into being afraid poor people of color from developing countries are going to ruin America?

⏰ Last couple of days to apply to join my group @Cambridge as a postdoc and work on the environmental (un)sustainability of AI! ⏳ Closing September 16th. ✏️ Apply here: tinyurl.com/2ukkp8yx Or learn more about what we do at www.lannelongue-group.org Initial examples of research projects below 👇

Research Associate*/Research Assistant in Sustainability of AI (Fixed Term)

An exciting opportunity has arisen for a talented researcher to join our team as part of the Green Algorithms Initiative, one of the leading academic teams in the field of sustainable computing. The

cam.ac.uk

KASIE HUNT: Over the summer you said, “There’s no vaccine that’s safe and effective”. Do you still believe that? RFK JR: “I never said that.” KASIE HUNT: “Play the clip.” RFK JR (clip): “There’s no vaccine that is safe and effective.” (March 2024) ht: @cwebbonline.com