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1/ We are excited to share our preprint on how insulin resistance reshapes human skeletal muscle signalling, and how exercise partially counteracts these effects 🏃 medrxiv.org/content/10.110… 🧵A thread:

The first paper from the Phipson lab has been published today in Genome Biology! Very proud to share this work, led by the talented Givanna Putri. SuperCellCyto: efficient analysis of cytometry data. A quick summary follows. genomebiology.biomedcentral.com/articles/10.11…

Thanks for the support, BHF Cardiovascular Epidemiology Unit at Cambridge! I'm excited to continue working with the CEU and to get to know the @Royalcom1851 community.

Heading to #eshg2024 shortly - we have four post doctoral positions in computational genomics, graph genomes, blood single cell genomics, and statistics coming online soon - get in touch if you are interested in meeting up and discussing any of these

Delighted to be in Berlin for #eshg2024! My team at the Centre for Population Genomics in Australia is looking for a senior computational biologist - if this is you, and you’re interested in relocating to Sydney, Melbourne, or NZ, I’d be happy to chat! populationgenomics.org.au/careers/

Excited to share our new preprint describing updates to the PGS Catalog (PGSCatalog.org ) and the PGS Catalog Calulator (pgsc_calc), a new tool for reproducible PGS calculation in the context of genetic ancestry (github.com/PGScatalog/pgs…). Just in time for #ESHG24! /🧵

We also describe the PGS Catalog Calculator (pgsc_calc; github.com/PGScatalog/pgs…), an open-source, scalable and portable pipeline to reproducibly calculate PGS in the context of genetic ancestry using reference data panel data from HGDP+1kGP. Prior 🧵: x.com/PGSCatalog/sta…

If you’re at #ESHG24 and interested in all things PGS Catalog & calculator (pgsc_calc) we’ll be giving a workshop on Monday (2 PM, shorturl.at/zYurA) with our NHGRI-EBI GWAS Catalog colleagues. But do DM if you want to chat or meetup at the conference! x.com/GWASCatalog/st…

How well do EHR-based scores predict disease onset compared to PGS? Can we predict disease onset in Finland using EHR-scores trained in the UK or Estonia? To find out what our intervene_eu study discovered, come see our poster at #ESHG2024 on 3.6. at 15:45

Keep this in mind when indicating that "the variant was not present in general population databases". Maybe your patient's population is underepresented. Slide from Kaitlin Samocha #ESHG2024

Exciting plans for the next gnomAD (v5) release, including integration of >400K diverse genomes from the All Of Us program, plus federated model to integrate data from national projects around the world (including Australia!). #eshg2024

.Konrad Karczewski #eshg2024: Biobanks allow us to do "all by all" analyses, where you test the millions of genetic variants against thousands of phenotypes. Points to work with UK Biobank, specifically Pan-UKB (pan.ukbb.broadinstitute.org) and Genebass (app.genebass.org).

Session towards #equity in genomics calling for large-scale African data collection for PRS #eshg2024

The Polygenic Score Catalog: new functionality and tools to enable FAIR research medrxiv.org/content/10.110… PGS calculator nextflow pipeline for polygenic score calculation github.com/PGScatalog/pgs…

Congrats Cecilia Lindgren! How lucky our field is to have you! 🌟#eshg2024

New preprint: We introduce MrDAG the first causal graphical model for Mendelian randomization (MR) to detect dependency relations within multiple exposures and within multiple outcomes to pinpoint which exposures cause disease biorxiv.org/content/10.110… Follow 🧵 for more. 1/

I genuinely think RAP is not a bad idea for lots of analyses but 1) this explicitly kills off lots of integrative work where you want to join your data with UKBB but can’t upload it to a cloud 2) immediate rule change with no grace period is baffling community.ukbiobank.ac.uk/hc/en-gb/commu…

New manuscript "Addressing the credibility crisis in Mendelian randomization" is out at BMC Medicine: bmcmedicine.biomedcentral.com/articles/10.11…. We discuss the explosion in MR studies, and what can be done by authors and editors/reviewers to improve the quality of published MR research. Thread:

Check out the latest developments of all things PGS Catalog, out now in Nature Genetics (🔗: rdcu.be/dVakA )! In this paper we describe big increases in the data content (and diversity) and our tool for PGS calculation (github.com/PGScatalog/pgs…).