@cdeboever3.bsky.social
Reposted
A really nice paper by @drghawkes.bsky.social et al. argues that rare and common genetic associations converge on the same genes.
While this seems at odds with our recent work about how burden tests and GWAS prioritize different genes, our results agree (🧬🧪🧵 1/6)
www.biorxiv.org/content/10.1...
While this seems at odds with our recent work about how burden tests and GWAS prioritize different genes, our results agree (🧬🧪🧵 1/6)
www.biorxiv.org/content/10.1...
Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations
Genetic association studies have mostly focussed on common variants from genotyping arrays or rare protein-coding variants from exome sequencing. Here, we used whole-genome sequence (WGS) data in 672,...
www.biorxiv.org
March 28, 2025 at 1:22 AM
A really nice paper by @drghawkes.bsky.social et al. argues that rare and common genetic associations converge on the same genes.
While this seems at odds with our recent work about how burden tests and GWAS prioritize different genes, our results agree (🧬🧪🧵 1/6)
www.biorxiv.org/content/10.1...
While this seems at odds with our recent work about how burden tests and GWAS prioritize different genes, our results agree (🧬🧪🧵 1/6)
www.biorxiv.org/content/10.1...
Reposted
New work from my group led by @olivia-wootton.bsky.social and Patrick Campbell, on the interplay between genetics and prematurity in developmental disorders - slightly different from our usual 'pure genetics' work. Please see Olivia's thread here.
1/ Thrilled to share our new preprint now out on medRxiv, where we explore genetic factors contributing to prematurity in developmental disorders and examine how prematurity influences clinical presentations: www.medrxiv.org/content/10.1...
Investigating the Interplay Between Prematurity and Genetic Variation in the Context of Rare Developmental Disorders
Rare damaging genetic variation accounts for a substantial proportion of the risk of rare developmental disorders (DDs), but common genetic variants as well as environmental factors, including prematu...
www.medrxiv.org
March 24, 2025 at 3:37 PM
New work from my group led by @olivia-wootton.bsky.social and Patrick Campbell, on the interplay between genetics and prematurity in developmental disorders - slightly different from our usual 'pure genetics' work. Please see Olivia's thread here.
Reposted
1/35 New paper out! @jamesTstroud and I dive into why long-term studies are crucial for understanding evolution. They reveal processes impossible to detect in short timescales and capture rare events that transform our understanding of evolutionary dynamics.
www.nature.com/articles/s41...
www.nature.com/articles/s41...
March 19, 2025 at 7:18 PM
1/35 New paper out! @jamesTstroud and I dive into why long-term studies are crucial for understanding evolution. They reveal processes impossible to detect in short timescales and capture rare events that transform our understanding of evolutionary dynamics.
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Reposted
Happy 37th birthday to the LTEE!
the-ltee.org/history/
the-ltee.org/history/
History – The Long-Term Evolution Experiment
the-ltee.org
February 24, 2025 at 3:39 PM
Happy 37th birthday to the LTEE!
the-ltee.org/history/
the-ltee.org/history/
Reposted
Calling all final-year PhD students in human genetics - reminder that the deadline for the Leena Peltonen School closes 7 March. Fantastic opportunity for great discussions with faculty, journal editors and other students from across the globe, and for finding postdoc mentors!
Exciting news: The Leena Peltonen School of Human Genetics returns in 2025! This prestigious summer school brings together leaders in human genetics with PhD students.
📅 July 27-31, 2025
📍 Wellcome Genome Campus, UK
📝 Apply by March 7 at www.lpshg.com
📅 July 27-31, 2025
📍 Wellcome Genome Campus, UK
📝 Apply by March 7 at www.lpshg.com
LPSHG – Leena Peltonen Shool Of Human Genomics
www.lpshg.com
February 21, 2025 at 7:20 AM
Calling all final-year PhD students in human genetics - reminder that the deadline for the Leena Peltonen School closes 7 March. Fantastic opportunity for great discussions with faculty, journal editors and other students from across the globe, and for finding postdoc mentors!
Reposted
Our new paper about rare variant contributions to sex differences in autism is out at AJHG, led by Mahmoud Koko with @vw1234.bsky.social and Kyle Satterstrom. Biggest analysis of exome data in autism to date including SPARK and ASC. www.sciencedirect.com/science/arti...
Contribution of autosomal rare and de novo variants to sex differences in autism
Autism is four times more prevalent in males than females. To study whether this reflects a difference in genetic predisposition attributed to autosom…
www.sciencedirect.com
February 16, 2025 at 12:29 PM
Our new paper about rare variant contributions to sex differences in autism is out at AJHG, led by Mahmoud Koko with @vw1234.bsky.social and Kyle Satterstrom. Biggest analysis of exome data in autism to date including SPARK and ASC. www.sciencedirect.com/science/arti...
Reposted
Two great postdoc positions available with the brilliant @vw1234.bsky.social in Cambridge, collaborating with me, on genetics of neurodevelopment conditions and traits in population and clinical cohorts. Due date 16 Feb www.jobs.cam.ac.uk/job/50147/.
Research Associate x 2 (Fixed Term) - Job Opportunities - University of Cambridge
Research Associate x 2 (Fixed Term) in the Department of Psychiatry at the University of Cambridge.
www.jobs.cam.ac.uk
February 4, 2025 at 10:01 AM
Two great postdoc positions available with the brilliant @vw1234.bsky.social in Cambridge, collaborating with me, on genetics of neurodevelopment conditions and traits in population and clinical cohorts. Due date 16 Feb www.jobs.cam.ac.uk/job/50147/.
Reposted
It’s been a tough few weeks. My 10yo daughter was diagnosed with a very rare, aggressive cancer called interdigitating dendritic cell sarcoma (IDCS). I’m reaching out to identify clinicians/patients who have encountered pediatric IDCS or other (non-LCH) dendritic or histiocytic sarcomas cases.
February 8, 2025 at 9:21 PM
It’s been a tough few weeks. My 10yo daughter was diagnosed with a very rare, aggressive cancer called interdigitating dendritic cell sarcoma (IDCS). I’m reaching out to identify clinicians/patients who have encountered pediatric IDCS or other (non-LCH) dendritic or histiocytic sarcomas cases.
Reposted
Can we learn protein biology from a language model?
In new work led by @liambai.bsky.social and me, we explore how sparse autoencoders can help us understand biology—going from mechanistic interpretability to mechanistic biology.
In new work led by @liambai.bsky.social and me, we explore how sparse autoencoders can help us understand biology—going from mechanistic interpretability to mechanistic biology.
February 10, 2025 at 4:12 PM
Can we learn protein biology from a language model?
In new work led by @liambai.bsky.social and me, we explore how sparse autoencoders can help us understand biology—going from mechanistic interpretability to mechanistic biology.
In new work led by @liambai.bsky.social and me, we explore how sparse autoencoders can help us understand biology—going from mechanistic interpretability to mechanistic biology.