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🎺New paper published🎺 CNest, the shiny new, "do real proper /common/ CNV association studies" off Whole Exome or Whole Genome data from Tomas Fitzgerald and myself has been published today from Cell Genomics cell.com/cell-genomics/…. 2 meta points:

Copy number variation (CNV) in the genome can lead to complex human diseases, including neurological disorders. CNest is a new, open source method for robust CNV discovery from whole genome sequencing datasets. embl.org/news/research-…

Are you a scientific researcher with experience in using #fishmodels for #genetic & #phenotypic analysis with an interest in Gene by Environment effects? 📅 17 – 18 October 👥In association with @NIEHS & European Research Council (ERC). 🔗Register for our free workshop: ebi.ac.uk/training/event…

🐟We have a few last-minute places on offer for our free, virtual #medaka #fishmodels workshop next week! 🔗Secure your place now: ebi.ac.uk/training/event… 🤔Already registered? Your access links will be available on the course website by 7:00 BST on Monday 17 October.

In 2010, the first genome-wide significant locus for frontotemporal lobar degeneration (FTLD) was discovered--an LD block spanning TMEM106B. Now, thirteen years later scientists found the causal variant--a 322 bp 3' UTR deletion. When it comes to structural variants in humans,

A new preprint - and first from my lab from Saul Pierotti - on a technical subject which we were frustrated by the lack of explicit exploration in the literature: how to best perform low coverage F2 sequencing to impute full genotypes from a F2 population. biorxiv.org/content/10.110…

Are you interested in how our genetic variation affects our response to medication? Apply for a Bridging Excellence #Fellowship to join me Open Targets Teri E Klein Stanford University and Tomas Fitzgerald EMBL-EBI in a collaborative project on #pharmacogenetics analysis using real world data

Excited to share that my first first-author paper is online on Bioinformatics Advances ! Check it out and thanks to amazing collaborators Bettina Welz WittbrodtLab and supervisor Ewan Birney Tomas Fitzgerald See the thread for a brief explanation of the work we did doi.org/10.1093/bioadv…

Got a PhD in a quantitative science? Want to work on AI and healthcare data? Want to work with one of the most innovative Pharma companies worldwide? Want to live in Cambridge UK and work across Europe? Apply below (position #2 :))

We have a new preprint out 🥳. FlexLMM is a Nextflow pipeline for running linear mixed models for GWAS that focuses on flexibility: users can specify the statistical model to be tester and the null model as R-style formulas. (continued) doi.org/10.48550/arXiv…

This was a really fun review to write together, interesting to reflect on why it’s taken so long for CNVs to level up to similar large scale GWAS applications - lots still to do but slowly getting closer to the SNP GWAS world 😀

Looking to the future, we ask what kind of genetic variation will be a priority for genome wide studies in the coming years, and how can we make sure the data is FAIR? Read more Nature Reviews Genetics 👇Thanks to Tomas Fitzgerald & all involved! nature.com/articles/s4157…

Genome-wide association studies focusing on SNPs have advanced our understanding of certain diseases but are reaching limits for some conditions. This Nature Reviews Genetics review highlights how exploring copy number variation can help break these limits. nature.com/articles/s4157…

📢Our preprint on deep learning for carotid plaque detection in 170,000 UK Biobank ultrasound images is out❗️ 👉robust associations of plaque presence/count with cardiovascular events🧠🫀 👉largest GWAS for carotid plaque (29,790 cases/36,847 controls)🧬 medrxiv.org/content/10.110…

New preprint 📣 In this work with Ian Brettell we developed a behavioural assay for medaka fish and the associated downstream data analysis pipeline. doi.org/10.1101/2024.1…

Got a PhD in bioinformatics or quantiative/CS degree? Want to work with AI on real world health care data, using some of the biggest datasets in the world? Want to live in Cambridge UK and work in European EMBL? This job in my research group is for you! embl.org/jobs/position/…

NEW: Postdoctoral Fellow with Ewan Birney The project is based in the Birney Research group at EMBL-EBI and working closely with Open Targets and Moritz Gerstung's group at DKFZ