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Lasse Folkersen

@folkersen.com

CSO Nucleus Genomics Genetics, polygenic risk scores. Previously at impute.me and Genome Center Denmark

98 Posts788 Follower688 Folgt
Lasse Folkersen@folkersen.com · 11mo ago

Very proud of this work: State of the art polygenic risk scores, and open-access even. Really hoping that this can push the field forward towards better disease prediction and prevention. The first author, Stephan, is only on X - but he did a great explainer thread there too. Check it out.

medRxivpreprint@medrxivpreprint.bsky.social · 11mo ago

Within- and Between-Family Validation of Nine Polygenic Risk Scores Developed in 1.5 Million Individuals: Implications for IVF, Embryo Selection, and Reduction in Lifetime Disease Risk https://www.medrxiv.org/content/10.1101/2025.10.24.25338613v1

Lasse Folkersen@folkersen.com · 2y ago

This aligns well with how I see the field evolving. Great to see more openness to different DNA data sources—under responsibility, of course! I see a future where both hospital and commercial DNA testing play a role in care. When high-quality data exists, it should be used!

Pradeep Natarajan@pnatarajanmd.bsky.social · 2y ago

Delighted to share our American Heart Association Scientific Statement on Direct-to-Consumer Genetic Testing for Cardiovascular Disease! www.ahajournals.org/doi/10.1161/... @ahascience.bsky.social @ahajournals.bsky.social

Lasse Folkersen@folkersen.com · 2y ago

Since this was only announced on Twitter, I wanted to share it here as well: Today we’re launching Nucleus Family—our biggest update yet. Family means a lot to me, and working on this has been one of the most meaningful projects I’ve been part of in a while.

Lasse Folkersen@folkersen.com · 2y ago

I really liked this commentary. It adresses the circularities in automated variant curation, but also seeks solutions. And I obviously also liked it, because it notes that we still should go beyond that simplistic "yes"/"no" bad pathogenic, good benign approach. www.cell.com/ajhg/fulltex...

Toward trustable use of machine learning models of variant effects in the clinic

Machine-learning-powered predictions of the effect of genetic variants on human disease are becoming increasingly important in the clinic. In this manuscript, we lay down the core principles for their trustworthy validation and implementation and highlight four areas where current practices fall short, offering recommendations for advancing the field.

cell.com

Lasse Folkersen@folkersen.com · 2y ago

Help wanted: I need some notable persons from America to say I'm ok to let into their country now and then. For an O1 visa application. Please, reach out if you are (kinda) notable and currently live in the USA.

Daniel MacArthur@dgmacarthur.bsky.social · 2y ago

Fantastic to see this large-scale Australian trial of expanded carrier screening - identifying couples at risk of having babies with severe genetic disease, before they get pregnant - published. tl;dr we should already be doing this at population scale. www.nejm.org/doi/full/10....

Nationwide, Couple-Based Genetic Carrier Screening | NEJM

Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recess...

nejm.org

Florian Wünnemann@flowuenne.bsky.social · 2y ago

For anyone that hasn't seen it yet, Seqera recently released Seqera AI 🤖 to help convert your non-Nextflow pipelines to Nextflow, write new Nextflow workflows and write tests. You can try it out right now at seqera.io/ask-ai/ 🚀! My secret favorite use is to ask it to roast my pipelines 🔥😆

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Leon Eyrich Jessen@leonjessen.bsky.social · 2y ago

@rabaath.bsky.social explains why even after 5 years #python pandas feels clunky when coming from #Rstats: www.sumsar.net/blog/pandas-... My take is not on whether one is better than the other for the experienced, but on which one is more accessible for the inexperienced.

Why pandas feels clunky when coming from R

Five years ago I started a new role and I suddenly found myself, a staunch R fan, having to code in Python on a daily basis. Working with data, most of my Python work involved using pandas, the …

sumsar.net

Jeffrey Barrett@jeffbarrett.eu · 3y ago

Next week's #ASHG2023 is an early test whether the growing bluesky genetics community can make social media at conferences fun again! Has someone set up one of those feed thingies? What's the right way to tag it? 🧬