Daniel Howrigan
@danhowrigan
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Human genetics & reproducible science
One of those internet tubes?
Joined January 2013
Excited to share our new FinnGen single-nucleus multiome preprint! 🧬 We profiled ~10M PBMCs (snRNA-seq + snATAC-seq) from 1,108 Finnish donors to map how genetic variants drive complex disease through chromatin and gene regulation 🧵👇 🔗 Link: https://t.co/A0LDn0jAKP
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Here is our new preprint ( https://t.co/dbRy3KLs27). We report heritability estimates for multiple traits using a within-family design in 500,000 sibling pairs of diverse ancestries! Fantastic collaboration with @23andMeResearch! Thanks to their participants and research team.
medrxiv.org
Quantification of the direct effect of genetic variation on human behavioural traits is important for understanding between-individual variation in socio-economic and health outcomes but estimates of...
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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. https://t.co/FTm3byYp67 (1/n)
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There’s a huge wide lane for Normie Health Thought, which is that healthy diets are v powerful, exercise is genuinely amazing, building muscle as you get older is awesome …. and also, drugs are great, GLP1s are a miracle, mRNA is cool, vaccines work, and supplements are mostly
Adherence to a Mediterranean diet linked to reduced dementia-related metabolites, many of which showed causal relationships (via MR), and lower risk Alzheimer's disease. Notable relationship with APOE4 genotyopes https://t.co/L52xrpKtkn
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Deadline extended to August 1st! Fully funded DPhil (PhD) in Statistical Genetics at Oxford, available to international candidates!
Come join us! We have an exciting PhD opportunity in statistical genetics at the University of Oxford. More info here: https://t.co/98qrCu7yWd 🗓️ App deadline: June 30th 2025. Please share!
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If you want to spot AI writing, here are some words to look out for:
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UNPRECEDENTED The singularity is near. We're 1-6 years away from AGI according to: 1. Prediction markets 2. Insider insights 3. Benchmarks 4. Lack of barriers to growth 5. Current progress This breakneck speed of AI progress is illustrated by OpenAI's o3 and DeepSeek🧵
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We are thrilled to share this work linking specific human brain cell types to psychiatric and neurological disorders, out now in @NatureNeuro
https://t.co/mKe356T3cB See below for an overview and thanks to the amazing Tayden Li, @willgiardino, @deissero, and so many others!
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2024's top 10 advances in medicine (🧵) 1. The numerous benefits of GLP1R agonists As well as causing weight loss, GLP1s can prevent complications of obesity (diabetes, liver fibrosis, kidney disease, osteoarthritis), treat heart failure, and even slow down Parkinson's:
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Latest paper out in @Nature this week: an atlas integrating 36 single-cell transcriptomic datasets spanning 26 protocols for making neural hashtag#organoids Effort led by @TreutleinLab @fabian_theis and @GrayCampLab In Figure 4 you can also find the pojection of the neural
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Here is an alternative to BioRender that is TRULY FREE and actively maintained. Over 1500 vectorized images sorted by license type (all creative commons or MIT). Fully editable icons and soon they will launch an Inkscape library. Please RT. https://t.co/8GFCa5p3A0
github.com
A library of free open source icons for science illustrations in biology and chemistry - duerrsimon/bioicons
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New preprint just dropped! 🧬🦠 For this project, we looked at the genetic relationships between psychiatric disorders and immune-mediated diseases. Check out the preprint here: https://t.co/8RWbig9jrL TL;DR below🧶
medrxiv.org
Importance Autoimmune and autoinflammatory diseases have been linked to psychiatric disorders in the phenotypic and genetic literature. However, a comprehensive model that investigates the associat...
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Come and work with us! The Lindgren @ceclindgren Lab at the Big Data Institute @bdi_oxford in Oxford is looking to hire a junior statistical geneticist/bioinformatician (finished or about to finish undergrad/masters): https://t.co/10kZgRtoE2. Please share!
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Excited to share this discovery: Huntington's disease is a DNA process for almost all of a cell's life. Inherited HD alleles are innocuous, just unstable – CAG repeats slowy expand throughout life, acquiring toxicity only when quite long (>150 CAGs).
biorxiv.org
Huntington Disease (HD) is a fatal genetic disease in which most striatal projection neurons (SPNs) degenerate. The central biological question about HD pathogenesis has been how the disease-causing...
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Excited to share our latest preprint from the @bmneale and @TalkowskiLab labs, where we developed metrics (GISMO/GISMO-mis) to quantify gene loss and missense variation across the mammalian tree to better understand gene essentiality! https://t.co/yAAUlFdSRR (1/n)
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Excited to share our latest preprint introducing SAIGE-QTL, a powerful tool for single-cell eQTL analysis! Check it out here: https://t.co/53svppNTIt
#eQTL #scRNAseq #genomics (1/9)
medrxiv.org
Understanding the genetic basis of gene expression can help us understand the molecular underpinnings of human traits and disease. Expression quantitative trait locus (eQTL) mapping can help in...
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GUIDE deconstructs genetic architectures using association studies https://t.co/I5S6itVnA2
#biorxiv_genetic
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Could not be more delighted to present our work investigating how over 220,000 complex and molecular trait-associated genetic variants affect transcriptional regulation using massively parallel reporter assays! https://t.co/1eoN4OxAvd See below for a 🧵. 1/n
biorxiv.org
Identifying the causal variants and mechanisms that drive complex traits and diseases remains a core problem in human genetics. The majority of these variants have individually weak effects and lie...
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After 20 years and 42 days, Illumina's patent covering DNA microarray normalization, clustering, and genotyping, together known as Illumina GenCall, filed on March 24th 2004, has expired https://t.co/v4s4Q4u9Pc 1/8
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🚨🔊Interested in structural variants? Genome sequencing? Pediatric cancers? Germline variants+cancer risk? Rare variants+rare diseases? If so (or even if not!), I'm delighted to share the first paper from my postdoc @VanAllenLab @DanaFarber: https://t.co/fjVQDxJ6Wa 1/12
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