Tobias Wolfram @_twolfram
Psychometrics, Sociogenomics, Behavioral Genetics, Statistical Genetics. twolfram.com Joined September 2018-
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Great study comparing genetics of disease susceptibilty vs. disease progression 👉at same sample size more loci identifiable in GWAS of susceptibility vs. progression 👉 genetic architecture of disease susceptibility largely different from that of disease-specific mortality
🚨 New preprint out! We reconstructed parental haplotypes in >440k individuals (UK & Estonian biobanks) to estimate assortative mating directly in the parental generation. This reveals intensified assortment in recent generations. 🔗biorxiv.org/content/10.110…
Today we are launching the best IVF calculator in the world. Based on data from over 500,000 cycles, we’ve modelled the distribution of potential outcomes at each stage of IVF. If you are undergoing or considering IVF, explore our calculator on the Herasight website.🧵
A new very high quality reference genome with an associated cell line -- allows for more systematic evaluation of errors in different sequencing technologies "A complete diploid human genome benchmark for personalized genomics" biorxiv.org/content/10.110…
We are excited to share GPN-Star, a cost-effective, biologically grounded genomic language modeling framework that achieves state-of-the-art performance across a wide range of variant effect prediction tasks relevant to human genetics. biorxiv.org/content/10.110… (1/n)
Some have questioned why eye color heritability is only ~45% in this study when we 'know' it is genetically determined. Part of the answer is likely assortative mating/population structure. To see this, consider that blue eyes are determined by a single gene, and blue eyed…
Some have questioned why eye color heritability is only ~45% in this study when we 'know' it is genetically determined. Part of the answer is likely assortative mating/population structure. To see this, consider that blue eyes are determined by a single gene, and blue eyed…
We’re excited to share our latest publication in @CellGenomics: “Streamlining Large-Scale Genomic Data Management: Insights from the UK Biobank Whole-Genome Sequencing Data”. Sincerely thanks to @drarwood, @muzizimumu1, @XihongLin, Yuxin Yuan, Gareth Hawkes, Robin Beaumont,…
We’re excited to share our latest publication in @CellGenomics: “Streamlining Large-Scale Genomic Data Management: Insights from the UK Biobank Whole-Genome Sequencing Data”. Sincerely thanks to @drarwood, @muzizimumu1, @XihongLin, Yuxin Yuan, Gareth Hawkes, Robin Beaumont,… https://t.co/KzJKGCBsAz
Massive study on the heritability of diseases/traits using a within-family design by @LoicYengo et al and the 23andMe team medrxiv.org/content/10.110…
The largest study on late life virginity, based on > 400k individuals, out now in @PNASNews Open access link: pnas.org/doi/10.1073/pn… Shoutout to shared first author @laurawesseldijk ❤️ Thread below 👇🏽
Scoliosis is the most common spinal deformity, but its genetic causes are still unclear. Using AI to measure spinal curves in 57,887 people, we discovered 2 novel genetic risk loci - showing how deep learning can unlock insights into musculoskeletal health medrxiv.org/content/10.110…
Check out this new and very readable article from @herasight on 'The Polygenic Revolution and the Future of Embryo Testing' in the American Society of Reproductive Medicine's journal, Fertility and Sterility.
Check out this new and very readable article from @herasight on 'The Polygenic Revolution and the Future of Embryo Testing' in the American Society of Reproductive Medicine's journal, Fertility and Sterility.
The impact of location on a child’s outcomes are small but definite. Here, the authors use the random assignment of military families to different bases to get around selection. A 1 SD better neighborhood for 20 years raises SAT score by 40 points. 1/
@herasight found that many Nucleus polygenic scores used few SNPs, with much lower performance than implied by their reports, potentially misleading customers about disease risk (thread below). Instead of responding to these criticisms, they release more marketing hype.…
@herasight found that many Nucleus polygenic scores used few SNPs, with much lower performance than implied by their reports, potentially misleading customers about disease risk (thread below). Instead of responding to these criticisms, they release more marketing hype.…
Check out Tuomo Hartonen’s blog post on our study out today in @NatureGenet comparing electronic health record-based risk scores with genetic polygenic scores, and how they work better together! tuomohartonen.substack.com/p/medical-reco…
Quick blog post: The genetics of gluttony One in 400 people have a mutation that strongly increases risk of obesity. What is the subjective experience of having a mutation like this? crimsoniris.com/blog/the-genet…
Impressive paper by EPIC. They built a autoregressive transformer on 150M individuals and 115 billion medical events. Including: diagnoses, medications, lab values, procedure Cons: model is not shared (and unlikely will be) arxiv.org/pdf/2508.12104
about 1 in 500 men have an XXY karyotype, i.e. two X chromosomes. 75% of them are unaware of this. associations include: - 16x odds of infertility - 5x odds of venous thrombosis - several others Interesting study!
about 1 in 500 men have an XXY karyotype, i.e. two X chromosomes. 75% of them are unaware of this. associations include: - 16x odds of infertility - 5x odds of venous thrombosis - several others Interesting study!
The "First Law of Behavioral Genetics" states that all traits are at least partially heritable. But @eawilloughby and her colleagues found an exception to the Law: beliefs about free will and determinism! Beliefs about fatalism and unpredictability had low heritability (in the…
Polygenic screening can be a powerful way for parents to improve their future children’s health, especially if they have a family history of disease. The best way to promote this technology is to help prospective parents understand it, not to pressure them into using it.…
Polygenic screening can be a powerful way for parents to improve their future children’s health, especially if they have a family history of disease. The best way to promote this technology is to help prospective parents understand it, not to pressure them into using it.…
Stage IV cancer is a rollercoaster - cliche but true - where one week you are completely non-functional and another you can hike up a large mountain (Mt Baden Powell, 2870m). I'm back in for chemotherapy infusion 3/4 of this round on Tuesday, which will floor me again for…
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