🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

Happy to announce the release of 200k UK Biobank WGS phased with SHAPEIT5, together with cutting-edge imputation pipelines. Relevant links: - Processing: biobank.ndph.ox.ac.uk/showcase/refer… - Access: biobank.ndph.ox.ac.uk/showcase/field… - Pipelines: srubinacci.gitbook.io/uk-biobank-imp… More details to come!

Looking forward to join the FIMM as a group leader! Will have open positions for PhD students and postdocs, get in touch if interested!

Our paper on the GEL haplotype reference panel and the latest whole-genome imputed #ukbiobank data (21008) is out #NatureGenetics, implying rare non-coding mutations are not as disruptive as coding variants. nature.com/articles/s4158…

We have developed and scaled the blended genome exome to >50k ancestrally diverse individuals. At ~$100/sample, it's cost comparable with GWAS arrays but assays high quality coding variants, enables CNV calling, and imputes common variants accurately biorxiv.org/content/10.110…

Read about the highlights of the 13th Nordic EMBL P'ship Partnership meeting, hosted during 16-19 September 2024 by our Norwegian node, @NCMMnews, in Oslo! The Partnership welcomed EMBL, the Michael Sars Centre and invited keynote speakers at this event. projects.au.dk/nordic-embl-pa…

Grat talk from Simone Rubinacci on Structural Variants (SVs) calling leveraging haplotype data, and downstream association analysis in the UK Biobank WGS data #ASHG24

Genome of Europe project launched: the first step towards a European reference genome | Shaping Europe’s digital future digital-strategy.ec.europa.eu/en/news/genome…

Amazing work by Margaux uncovering patterns of repeat expansions and contractions using UK Biobank and All of Us data. Check it out!

🚨 Our preprint on parent-of-origin effects (POEs) is out! With our new method, we inferred the parental origin of >220,000 individuals, revealing new insights into the genetic architecture of complex traits. 👉 Read here: medrxiv.org/content/10.110… 👇 Highlights below!

I've been thoroughly enjoying this amazing paper. One stat that blew my mind is the extreme mutation rate of some of the most polymorphic short tandem repeats in the human genome that the authors report. The authors searched for expanded CAG repeats across the human genome

SURFBAT: a surrogate family based association test building on large imputation reference panels academic.oup.com/g3journal/arti…

Happy New Year! Our Twigstats paper is now out! nature.com/articles/s4158…

Excited to share the paper: Huntington's disease is a DNA process for almost all of a cell's life. Inherited HD alleles are innocuous, just unstable – CAG repeats slowy expand throughout life. We call it a "ticking DNA clock". cell.com/cell/fulltext/…

In Milan Human Technopole we opened core-funded computational Group Leader positions in one or more of bioimage analysis, spatial ‘omics, AI for genomes and proteins, computational simulations of cells and tissues. Come to lead your research programme! careers.humantechnopole.it/o/group-leader…

Sex chromosome trisomies - including 47,XXY, 47,XYY, and 47,XXX - are the most common type of chromosome abnormalities in humans. Yet, our understanding of the prevalence and associated health outcomes is primarily driven by observational studies of clinically diagnosed

Finally out!🤩 My first first-author publication is now online. We explored the molecular mechanism underlying the genetic correlation between #BMI and #brain morphology. journals.plos.org/plosgenetics/a… I want to sincerely thank all the co-authors:

🚨 Great opportunity at FIMM, University of Helsinki! We're hiring early-stage group leaders in molecular medicine. Feel free to reach out if you're interested! 🔗 jobs.helsinki.fi/job/Helsinki-F… #academicjobs #sciencejobs #academiccareer #groupleader #research