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!

Petr Danecek for BCFtools, Olivier Delaneau for SHAPEIT5, Simone Rubinacci for IMPUTE5, Joelle Mbatchou for REGENIE, the Cromwell team at the Broad Institute for Cromwell, and many others. Our work would not have been possible without your efforts

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…

Very proud to be part of this study led by Anna Malaspinas, published in nature, exploring the genomic history of Rapa Nui. Huge shoutout to Barbara and Victor for their amazing work! Check out our findings here: nature.com/articles/s4158…

Congratulations to Ali Akbari Ali Akbari on his amazing new work on selection in Western Eurasia that is finally released as a preprint after years of painstaking work. Accompanying it is a selection browser (beta) reich-ages.rc.hms.harvard.edu biorxiv.org/content/10.110…

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…

Save the date: European Mathematical Genetics Meeting (EMGM) 2025, 8-9 April, Brest, France

Nice paper quantifying the (unsurprising) limited benefit of WGS in association discovery. The broader discussion should include also other important uses of WGS data beyond association: imputation panels, constraint, popgen... And we'll see if this will change with long reads.

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

(1/n)Our latest work about finemapping of causal variants for complex traits is finally out in Nature Genetics. nature.com/articles/s4158… Sumstas are available. jenger.riken.jp/en/result Determining the causal variants of human complex traits, especially rare ones, is challenging.

Warm welcome to the Harvest time at FIMM seminar! FIMM Director Samuli Ripatti and new FIMM-EMBL Group Leaders will present their plans for the near future. 📅Wednesday Oct 30 at 13:15-15:00 🏢Biomedicum Helsinki, Lecture Hall 1 More information and registration: lyyti.fi/reg/FIMM_harve…

NEW PREPRINT ALERT ⚠️ Are electronic health records (EHR) more predictive of disease onset than polygenic scores (PGS)? Can we transfer EHR-based prediction models between countries? We studied these questions using 3 biobank-based studies with >845K people. A thread 🧵 1/N