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Lasse Folkersen

@folkersen.com
789 followers 688 following 99 posts

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

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Lasse Folkersen @folkersen.com · 01/10/2026
In most cases yes, but there are some exceptions typically when there are very few embryos to choose from.
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Lasse Folkersen @folkersen.com · 03/09/2026
Very interesting paper
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Lasse Folkersen @folkersen.com · 28/08/2026
Probably would be more cost effective and safe to systematically screen for DMD carrier and then do PGT-M on those at risk. But very cool science demonstration, and huge for those living with it today.
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Lasse Folkersen @folkersen.com · 27/08/2026
Very interesting results, very cool study!
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Lasse Folkersen @folkersen.com · 17/08/2026
Where is the acceptable place to draw the line in your mind then? Monogenic disorders only? What about polygenic risks that are more predictive than monogenic disorders?
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Lasse Folkersen @folkersen.com · 19/04/2026
Yeah, it's funny like that. I did see it a few more places, now, e.g. here bsky.app/profile/dr-a... - but it seems it didn't really "catch"
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Lasse Folkersen @folkersen.com · 10/12/2025
Godt de ikke også kan fejre det samme for 10-måneders året!
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Lasse Folkersen @folkersen.com · 24/11/2025
And finally, may I remind everyone that the goal is, and always was, to lower the bar for access to genetic information that can improve the health of everyone.
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Lasse Folkersen @folkersen.com · 24/11/2025
Here's a link to where the scores can be downloaded mynucleus.com/labs/origin
mynucleus.com
Origin | Nucleus Labs
A family of the most predictive genetic models ever built.
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Lasse Folkersen @folkersen.com · 24/11/2025
Here's a link to Stephan's more detailed point by point response on the specific scientific allegations x.com/stephan_cdgn...
x.com
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Lasse Folkersen @folkersen.com · 24/11/2025
We welcome discussion, but right now it seems many on X are just repeating incorrect and planted claims that can be easily verified independently. Besides, I note that the we apparently are the only ones in this debate that chose to release our full scores.
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Lasse Folkersen @folkersen.com · 24/11/2025
But it feels overwhelming to see these massively popular Twitter accounts seek to distort our words and intentions and I'm sure we have not seen the last of it. I would therefore encourage those of you in my network that have the time and ability, to join in on independently scrutinizing this work
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Lasse Folkersen @folkersen.com · 24/11/2025
So far the factual errors found are: * A typo of an ICD-9 code in a supplementary table * A sentence with a typo that wrongly muddles the distinction between training and validation sets Those are trivial and will of course be corrected.
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Lasse Folkersen @folkersen.com · 24/11/2025
It is true that we have used the same biobanks, UK Biobank, All-Of-Us, but who has not? We have also used the same SBayesRC method developed by researchers at the University of Queensland, for calculating the weights. It seems to be the current state of the art, why would we not use it?
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Lasse Folkersen @folkersen.com · 24/11/2025
I want to assure all my friends and peers that of course it is not fraud and plagiarism. We have been running polygenic risk scoring for more than a decade now, and this is simply the latest step in a long trail of ever-improving predictive algorithms.
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Lasse Folkersen @folkersen.com · 24/11/2025
However, it seems to have riled up the people in and around the IQ-prediction company Herasight, so much that we have now gotten their entire fanbase in the IQ-genetics crowd screaming about fraud and plagiarism and worse.
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Lasse Folkersen @folkersen.com · 24/11/2025
I don't think I've ever had a pre-print more heavily scrutinized than the one we recently put on medRxiv with the new Nucleus Genomics PRS for 9 diseases: www.medrxiv.org/content/10.1... This is great! We welcome discussion!
medrxiv.org
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Lasse Folkersen @folkersen.com · 21/11/2025
Yeah, agreed. I'd definitely definitely also recommend to focus on things like cancer PRS, and then only after classic/rare mendelian effects have been excluded. Maybe also Alzheimer's, diabetes and cardiovascular disease - the predictive power of PRS for those is quite good nowadays.
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Lasse Folkersen @folkersen.com · 21/11/2025
When there's several viable, euploid, embryos without severe mendelian disorders left to choose from, I honestly don't see the problem of looking at polygenic risk scores among the remaining. Some of them can really reduce the disease burden a lot.
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Lasse Folkersen @folkersen.com · 19/11/2025
what makes you think people wouldn't select for viability, e.g. euploidy, first?
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Lasse Folkersen @folkersen.com · 18/11/2025
h63d is just exactly in, at the very least severe end of the spectrum - you are correct about that, but it's not what solely drive the 90%, far from it. Most people do have other and more severe recessive variants - pubmed.ncbi.nlm.nih.gov/39565987/
pubmed.ncbi.nlm.nih.gov
Nationwide, Couple-Based Genetic Carrier Screening - PubMed
Couple-based reproductive genetic carrier screening was largely acceptable to participants and was used to inform reproductive decision making. The delivery of screening to a diverse and geographically dispersed population was feasible. (Funded by the Medical Research Future Fund of the Australian g …
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Lasse Folkersen @folkersen.com · 30/10/2025
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.
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Lasse Folkersen @folkersen.com · 22/09/2025
Life will find a way!
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Lasse Folkersen @folkersen.com · 29/06/2025
Such a nice iniative.
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Lasse Folkersen @folkersen.com · 29/06/2025
Sex, age, cholesterol, blood pressure pretty good too. But they are all independent and can be used together, so there is that.
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Lasse Folkersen @folkersen.com · 10/06/2025
I don't think I am.
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Lasse Folkersen @folkersen.com · 10/06/2025
Probably because he or she followed me, and I just pressed follow back, idk. Have no idea who it is. Look, I will be very happy to debate ethics with you, but I think you come off as slightly threatening here. What gives?
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Lasse Folkersen @folkersen.com · 10/06/2025
Following someone on bsky (or elsewhere) does not imply a recommendation of their opinion, in my book.
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Lasse Folkersen @folkersen.com · 08/06/2025
Yes, I understand that you think the spread of predictions should be more tight. That's why I ask what threshold you'd consider as ok? The reason I ask, is of course that some of the PRS are actually stronger predictors than PGT-M, which I assume you find to be ok.
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Lasse Folkersen @folkersen.com · 08/06/2025
That's fine! Thanks for discussing.
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Lasse Folkersen @folkersen.com · 08/06/2025
But it's not nothing either, and because of that I think it's a real problem that otherwise well-intended reporting guidelines inadvertently can lift it up to a status of strong but forbidden.
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Lasse Folkersen @folkersen.com · 08/06/2025
These are typical values btw, breast cancer PRS are very strong and it seems odd to me to not use that, if monogenic PGT-M is accepted as ok. IQ prediction strength is weak at best, few points at the max.
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Lasse Folkersen @folkersen.com · 08/06/2025
My view then, is to take openness of information to it's completion and instead emphasise accurate communication. Using absolute scales helps, e.g. comparing between +1 IQ and -30%points breast cancer risk frames the choices in a way that reflects the relative differences in prediction strength.
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Lasse Folkersen @folkersen.com · 08/06/2025
Yes, very difficult to draw a firm line, agreed, exactly. "PRS vs monogenic" won't work, because some PRS are stronger. Similarly "traits vs diseases" also can run into problems because extremes of traits often become diseases (e.g. dwarfism/height, mental-retardation/IQ).
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Lasse Folkersen @folkersen.com · 08/06/2025
How do they work then?
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Lasse Folkersen @folkersen.com · 08/06/2025
So what are your exact limits of allowance then? Can people use stronger PRS like those for breast cancer and diabetes? (R^2 =20-30%) Or is that also strictly for adult testing in your view?
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Lasse Folkersen @folkersen.com · 08/06/2025
So what's your preferred predictive value threshold instead? 10% variability explained? 30%? Some PRS exceed that level, and I'm trying to understand which parts of them you don't like.
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Lasse Folkersen @folkersen.com · 08/06/2025
You can, actually, the technology has come a long way.
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Reposted by Lasse Folkersen
Mike Inouye @mikeinouye.bsky.social · 12/05/2025
📣 Psychological & behavioural considerations for integrating polygenic risk scores for disease into clinical practice www.nature.com/articles/s41... Saskia Sanderson & I wrote a piece assessing the common concern that PRS may have psych/behavioural harms tl;dr 👉 There's little/no evidence for this
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Lasse Folkersen @folkersen.com · 01/05/2025
Very cool!
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Lasse Folkersen @folkersen.com · 12/04/2025
I see. Guess I have to relearn some basic biology here 😄 But it makes total sense in the age of genetics! Which I guess takes us back to your thought experiment on "how much" they could make a jackal from a wolf.
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Lasse Folkersen @folkersen.com · 12/04/2025
Interesting. Can they fertile offspring or is that criteria not really used anymore?
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Lasse Folkersen @folkersen.com · 12/04/2025
That's an interesting thought experiment! Really defines what "functional" mean. How close do you they could come?
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Lasse Folkersen @folkersen.com · 27/03/2025
They did contribute to a lot of scientific publications to be fair. Those are a service, no?
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Lasse Folkersen @folkersen.com · 15/03/2025
Just doing our part for the health of the next generations: www.youtube.com/watch?v=d4zf...
youtube.com
Introducing: Family Planning Through Genetic Matching
YouTube video by Nucleus Genomics
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Lasse Folkersen @folkersen.com · 13/03/2025
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!
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Lasse Folkersen @folkersen.com · 13/03/2025
Yeah, seems like it
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Reposted by Lasse Folkersen
Shai Carmi @shaicarmi.bsky.social · 10/11/2024
Given several new followers here, I'm posting the link to our Slack group "genetic genealogy science". We post and discuss manuscripts on phasing/imputation, IBD, recombination, demographic inference, ancient DNA, ancestry/admixture, etc. All are welcome. join.slack.com/t/geneticgen...
join.slack.com
Slack
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Lasse Folkersen @folkersen.com · 13/03/2025
That's a good answer to a question I very very often get asked!
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Lasse Folkersen @folkersen.com · 11/03/2025
all the scores at pgscatalog are referenced, maybe you can find some from other journals there? They have 40 for heart disease: www.pgscatalog.org/search/?q=he...
pgscatalog.org
PGS Catalog - The Polygenic Score Catalog
The Polygenic Score (PGS) Catalog is an open database of published PGS and the relevant metadata needed to apply and evaluate them correctly.
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