A rare protein coding variant study identifies six significant hand grip strength genes, KDM5B, OBSCN, GIGYF1, TTN, RB1CC1, and EIF3J. Nature Communications nature.com/articles/s4146…

Our new paper is now in biorxiv: We modified the Illumina library prep & introduce RIMS-seq2 which enables DNA sequencing and regional methylation calls in humans through a single, easy experiment. New England Biolabs, Albert Vilella Phase Genomics (1/4) biorxiv.org/content/10.110…

Is having even more gene-disease associations still useful for picking drug targets? For which types of programs does it matter? Has pharma shifted focus towards genetically validated targets? New paper by me, Matt Nelson, Coco (Chengliang) Dong, & Jeffery Painter doi.org/10.1101/2023.0…👇

isGWAS: a new tool for ultra-fast association testing from just summary statistics ⬇️compute limitations: “green GWAS” for everyone & predicts “future” GWAS loci 👏to a fantastic collaboration: Optima MarioniGroup Benjamin Sun Please test, share thoughts: optima-isgwas.com

Our guide how to realize clinical recall studies from the amazing FinnGen resource (exemplified by a small pilot for Alzheimer's disease) has now been published in Scientific Reports. Thank you to all co-authors and participants! Valtteri Julkunen Eero Vuoksimaa nature.com/articles/s4159…

[Chen et al. 2023 NG; pubmed.ncbi.nlm.nih.gov/37231097/] looked for rare coding associations with three phenotypes: Edu, Reaction Time, VNR. They found 5 associations with Edu (+3 others), demonstrating that Edu can be a reasonable and accessible proxy phenotype for rare var studies.

We are thrilled to announce the next exciting chapter of FinnGen! After completing the construction of the research resource of 500,000 Finns, we will now move to the phase of understanding disease mechanisms and disease progression. finngen.fi/en/finnish-gen…

📰 Published in nature today: 13 leading biopharmaceutical companies have collaborated to create the world's largest proteomic dataset using UK Biobank blood samples, forming the most detailed study of how genetics & proteins influence disease.

Super excited a series of THREE UKBIOBANK UKBIOBANK #proteomics papers are now online on nature! nature.com/articles/s4158… - flagship paper and two sister companion pieces: nature.com/articles/s4158… and nature.com/articles/s4158… - Herculean team effort across so many teams! More to follow.

Thrilled to see our paper on rare variant associations with plasma protein levels in the UK Biobank published in @nature today nature.com/articles/s4158… Summary statistics are publicly available at azphewas.com and an interactive portal astrazeneca-cgr-publications.github.io/pqtl-browser/i…

Out now in Genome Biology: Martijn Vochteloo developed a method to identify 'principal interaction components' that maximise explained interaction variance of eQTLs. He is an excellent PhD student and looking for a postdoc position in Germany. If you have one, please contact him!

Some musing thoughts on genetics and education/education related traits from some papers over 2023. TL;DR some rare genetic variants have noticeable effects, even in "normal" cohorts, but common variants are not useful for stratification of pupils overall >>

Exome-wide association study of depression in the UK Biobank led by Biogen team Tian et al. Nat Comm nature.com/articles/s4146…

Exciting news! Our latest study has been published in Nature Communications: nature.com/articles/s4146… Congrats and huge thanks to Chia-Yen Chen, Heiko Runz, and all our other co-authors, Tian Ge, Todd Lencz, Max Lam, Jimmy Liu, Ellen Tsai for their exceptional contributions!

Published today, our reasons for optimism that success rates in drug discovery can be improved by picking the right targets using human genetics: nature.com/articles/s4158… I break the key findings down panel by panel in this thread: x.com/cureffi/status…

Investigational medicines with human genetic support for their mechanisms are 2.6-fold more likely to successfully make it to regulatory approval vs those without nature.com/articles/s4158… nature

Our paper is finally out in Genome Research : genome.cshlp.org/cgi/content/lo… RIMS-seq2 : DNA-seq and regional methylation information in human. #genetics and #Epigenetics combined in a single experiment

Excited to share our work now in Nature Aging. Multiplex blood #proteomics + #MachineLearning in UK Biobank improve multiple #disease incidence #prediction beyond traditional risk factors. nature.com/articles/s4358… Shout out to my colleagues and old team at Biogen

Delighted to see Robert Hillary's protein vQTL + GxE paper using data from UK Biobank published in Nature Communications. nature.com/articles/s4146…

Excited to share our work now in Nature Communications. Variance protein QTLs in UK Biobank uncover gene interactions spanning female #physiology, #blood groups, white cell indices. nature.com/articles/s4146… Shout out to my co-authors and former Biogen team.