Alexander Busch

Great to see this paper out by @D_Westergaard and colleagues - including myself - leveraging the just jaw-droppingly good combination of the Danish pedigree data (across the entire country!) and their highly detailed EHR. nature.com/articles/s4146…

Another mind-blowing discovery from deCODE team. Homozygosity of a loss of function variant (p.Arg162Ter) in CCDC201, an obscure gene that was only recently added to human gene database, is associated with a whopping 9 years earlier onset of menopause. This effect size is…

eQTL Catalogue release 7 now out! Brings ten new eQTL datasets, including six uniformly processed single-cell datasets. Single-cell eQTL mapping led by Peep Kolberg in my group. More details: ebi.ac.uk/eqtl/Release_n… @eQTLCatalogue

#ENDO2025 AI meets genetics to uncover the biology behind testicular volume (as proxy for quantitative spermatogenesis) in nearly 19,000 men. A fresh look at male fertility through big data and smart imaging. #MaleFertility #Genetics #AI #UKBiobank

Attending #ENDO2025 in San Francisco this week. Presenting findings from our GWAS on testicular size on Monday.

Sequence diversity lost in early pregnancy | Nature @nature congrats to all collaborators on this landmark paper nature.com/articles/s4158…

Lovely reception at #tivoli #connectingendocrinology2025 @ESEndocrinology

I wrote about how population stratification in genetic analyses led to a decade of false findings and almost certainly continues to bias emerging results. But we are starting to have statistical tools to sniff it out. A 🧵:

So happy to see this published in NatComms! tinyurl.com/yc66amvu Rare variant assocs with birth wt identify 9 genes. Insights into links btwn earlygrowth and later metabolic health. Great collabs btwn teams Exe&Camb. Amazing resources of UKB & deCODE made it possible.

Introducing a new method called REMETA from the Regeneron Genetics Center (RGC) @RegeneronDNA for meta-analysis of gene-based tests using summary statistics rgcgithub.github.io/remeta/ This is great work from Tyler Joseph. Pre-print is here​ medrxiv.org/content/10.110…

Million Veteran Program & FinnGen teams are pleased to release v1 meta-analysis of MVP, FinnGen and UKBB GWAS data. This first version includes ~300 binary disease definitions across >1.5 M individuals. Browse scans at: mvp-ukbb.finngen.fi

REGENIE v4.0 is live!🎉 You can now analyze time-to-event phenotypes, leveraging power gains with case-control phenotypes where time-to-event information is available. github.com/rgcgithub/rege…

"Although [whole genome sequencing] results in an approximately fivefold increase in the total number of assayed variants over [exomes + imputation], the number of detected signals differed by only 1% ..." nature.com/articles/s4158…

Gooood morning Cologne! A fantastic day to present our PGS project on growth in infancy at the #JAPED24 @UKKoeln

Thrilled to see this outstanding work published in @NatureComms 🎉 Congratulations to the entire team for their hard work and dedication 🧬

📢 Register for the 33rd @CeraMuenster Summer Academy uni.ms/o9z7p From 26-30 August, we delve into the fundamentals and clinical aspects of human reproduction through an interdisciplinary lens. Join us for daily plenary lectures and expert-led sessions 👇

A comprehensive GWAS (800k women) and ExWAS (200k women) of age at menarche, dissecting the genetic architecture of puberty timing across the entire allele frequency spectrum. Kentistou, Kaisinger et al. Nat Gen nature.com/articles/s4158… I wrote about this work last year when…

Glad to have contributed a "danish percespective" using the fantistisc DBDS study @Rigshospitalet @EDMaRC_Official @Bloddonorstudie. Congratulations John @jrbperry, Felix, and Ken!

Good morning #Boston & #ENDO2024 ! Day #2. Enjoy the sun and our Poster SUN-500 later today on the genetics of #testosterone decline in ageing men. If you stay a little longer check also out the Rapid Fire Oral at 1:45 at 205ABC - BCEC

#ReproTrackMS Kickoff! Official welcome to Nadia Edelsztein who joined our group to work on the miraculous Sertoli cells during minipuberty. Thx to @RodTMitchell, @EwaMeyts and @AMeinhardt_Lab contributing as ext. rev. panel.