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Dr Gareth Hawkes

@drghawkes.bsky.social
397 followers 413 following 27 posts

MRC Career Development Fellow, Lecturer in Health Data Science, University of Exeter. Academic in genetics, rare variants and complex traits

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Reposted by Dr Gareth Hawkes
Cedric Boeckx @cedricboeckx.bsky.social · 14/02/2026
Very nice work led @drghawkes.bsky.social, showing convergence between rare and common genetic associations, using whole-genome sequencing data to evaluate the contribution of rare non-coding variants for commonly studied anthropometric traits 🧪🧬 www.nature.com/articles/s41...
nature.com
Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations - Nature Communications
Most GWAS have focused on common variants or rare protein coding variants. Here, the authors interrogate the contribution of rare non-coding variants for anthropometric traits, identifying new genes a...
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Dr Gareth Hawkes @drghawkes.bsky.social · 06/02/2026
Exeter rising-star @hiwwright.bsky.social leading the way in bridging population-scale WGS datasets for federated meta-conditioning across genetically-inferred ancestries. Haplotype effects are rife across the chromosomes: reference panels and LD matrices struggle with the rarest of variation!
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Dr Gareth Hawkes @drghawkes.bsky.social · 17/11/2025
Interested in whole genomes, AI and functional validation? Sign up to hear more about our summer school in the sunny southwest U.K. @exeter.ac.uk in Sept 2026, in partnership with the U.K. Functional Genomics Initiative @uk-fgx.bsky.social and Google Deepmind @nihrexeterbrc.bsky.social
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Reposted by Dr Gareth Hawkes
loic-yengo.bsky.social @loic-yengo.bsky.social · 12/11/2025
First time on Bsky and first big announcement! I am excited to announce that our new study explaining the missing heritability of many phenotypes using WGS data from ~347,000 UK Biobank participants has just been published in @Nature. Our manuscript is here: www.nature.com/articles/s41....
nature.com
Estimation and mapping of the missing heritability of human phenotypes - Nature
WGS data were used from 347,630 individuals with European ancestry in the UK Biobank to obtain high-precision estimates of coding and non-coding rare variant heritability for 34 co...
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Dr Gareth Hawkes @drghawkes.bsky.social · 10/11/2025
Genomic superstar @chundru.bsky.social taking on fake-news genotypes in >900k individuals. He shows allele-level filtering is rarely suffifient, and makes the brave choice to properly tackle chrX! We’ll be providing our filtered AoU WGS plink pgens for all registered users: watch this space
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Reposted by Dr Gareth Hawkes
Tim Frayling @timfrayling.bsky.social · 27/05/2025
Already-risen Exeter star Gareth Hawkes @drghawkes.bsky.social following up with the latest master class in how to use WGS data, >1 billion variant based GWAS. They bypassed the WES era as didn't want to leave out 99% of the genome :-) #ESHG2025
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Dr Gareth Hawkes @drghawkes.bsky.social · 27/05/2025
Come along today and see me and Harry begin to tackle the exponentially increasing population scale WGS data! #ESHG2025 #ESHG25
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Reposted by Dr Gareth Hawkes
Kartik Chundru @chundru.bsky.social · 26/05/2025
I will be talking today in Space 3. The session starts at 10:30, my talk will be at 11:15 Come join if you are interested in de novo mutations, non-coding genome, rare disease, or just up for seeing @nickywhiffin.bsky.social talk about RNU4-2 saturation mutagenesis after me 😂 #ESHG2025
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Dr Gareth Hawkes @drghawkes.bsky.social · 23/05/2025
Got a big showing of talented University of Exeter scientists with talks and posters at ESHG25 in Milan. Come along and find out more! @hls.exeter.ac.uk @exeter.ac.uk #ESHG25 @jamesfasham.bsky.social @jingzhan.bsky.social @ambermluckett.bsky.social @chundru.bsky.social @harrygreentkd.bsky.social
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Reposted by Dr Gareth Hawkes
Jeff Spence @jeffspence.github.io · 28/03/2025
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...
biorxiv.org
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,...
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Dr Gareth Hawkes @drghawkes.bsky.social · 24/03/2025
Excited to be able to announce I’ll be starting a 5-year MRC Career Development Award fellowship next week on the 1st April at the University of Exeter! Lots of work to do on whole genomes, and I’m hoping to keep contributing my small piece!
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Dr Gareth Hawkes @drghawkes.bsky.social · 14/03/2025
Last few days to apply! @exeter.ac.uk
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Reposted by Dr Gareth Hawkes
Tim Frayling @timfrayling.bsky.social · 21/02/2025
Interested in a PhD & have strong computational skills ? Study diabetes & heart disease using peta bytes of human genetic & medical record data. In a lovely central European location and as part of a cohort of Genomics and Digital Health students : lifesciencesphd.unige.ch/jobs
lifesciencesphd.unige.ch
University of Geneva - PhD School of Life Sciences | Jobs
Open positions in the wold of life sciences. All you need to organize you scientific life is there! Do not miss them!
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Reposted by Dr Gareth Hawkes
Cedric Boeckx @cedricboeckx.bsky.social · 26/02/2025
Very interesting finding in this study led by @drghawkes.bsky.social: convergence between rare and common genetic associations. Implications for the genetic architecture of complex traits 🧪🧬 www.biorxiv.org/content/10.1...
biorxiv.org
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Reposted by Dr Gareth Hawkes
Sasha Gusev @sashagusevposts.bsky.social · 26/02/2025
We finally have some well-powered whole-genome heritability estimates, including a quasi-behavioral trait (BMI). For height, ~89% of the heritability estimated to reside in common variants. For BMI and WHR, ~100% estimated in common variants. www.biorxiv.org/content/10.1...
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Reposted by Dr Gareth Hawkes
Mike Inouye @mikeinouye.bsky.social · 25/02/2025
Exeter doing some great stuff with biobank scale WGS at the moment! Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations www.biorxiv.org/content/10.1...
biorxiv.org
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,...
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Dr Gareth Hawkes @drghawkes.bsky.social · 26/02/2025
Really excited to share our next population-scale WGS work preprint. Here, we analyse three anthropometric traits in nearly 700,000 individuals (discovery UKB ~450K, replication AoU). We show, for these traits, that common and rare variant heritability is convergent www.biorxiv.org/content/10.1...
biorxiv.org
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,...
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Dr Gareth Hawkes @drghawkes.bsky.social · 24/02/2025
Excited to finally share that our paper looking at the effect of rare non-coding variants using WGS on circulating protein levels in the UKB has been released in Nature Genetics @naturegenet.bsky.social! We now analyse the full 3,000 circulating proteins in all 50,000 individuals rdcu.be/ea16i
rdcu.be
Whole-genome sequencing analysis identifies rare, large-effect noncoding variants and regulatory regions associated with circulating protein levels
Nature Genetics - Rare variant association analysis of plasma proteins using whole-genome sequencing data in 54,306 individuals in the UK Biobank demonstrates that combining both single-variant and...
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Dr Gareth Hawkes @drghawkes.bsky.social · 18/02/2025
We’re hiring! Looking for a motivated data scientist/bio-informatician to join our team analysing WGS across biobanks via meta analysis, with a focus on T2D and its related traits. Please get in touch if you’re interested! tinyurl.com/3wdfc2me
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Mike Weedon @mnweedon.bsky.social · 07/02/2025
A great opportunity to join us in Exeter as a Lecturer in Health Data Science: tinyurl.com/2sy7w2y5. Please get in touch if you're interested!
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Reposted by Dr Gareth Hawkes
Rachel Freathy @rmfreathy.bsky.social · 19/01/2025
So happy to see this published in NatComms! tinyurl.com/yc66amvu Rare variant assocs with birth weight identify 9 genes. Insights into links between earlygrowth & later metabolic health. Great collabs between teams Exe&Camb. Amazing resources of UKB & deCODE made it possible.
tinyurl.com
Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling - Nature Communications
An exome-wide association study for fetal and maternal rare deleterious variants affecting the normal variation in birth weight identifies nine genes involved in adipose tissue regulation, placental f...
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Dr Gareth Hawkes @drghawkes.bsky.social · 21/11/2024
Probably the best second-post on blue sky I could’ve hoped for
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Dr Gareth Hawkes @drghawkes.bsky.social · 15/11/2024
Hi everyone! For those who don’t know me, I’m a new PI & Lecturer in Health Data Science at the University of Exeter in the U.K. Interested in all things rare variant, whole genome sequences, bioinformatics and complex traits. Looking forward to joining this new audience!
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