Dr Gareth Hawkes
@drghawkes.bsky.social
MRC Career Development Fellow, Lecturer in Health Data Science, University of Exeter. Academic in genetics, rare variants and complex traits
Reposted by Dr Gareth Hawkes
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....
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....
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...
www.nature.com
November 12, 2025 at 5:57 PM
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....
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....
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
We’ll be providing our filtered AoU WGS plink pgens for all registered users: watch this space
New paper on everyone’s favourite topic, QC!
We show why you should do genotype-level QC on your WGS data
www.biorxiv.org/content/10.1...
Very real quotes about this paper -
“The most exciting, mind-blowing paper of the year!”
“On a par with Fisher 1918”
“I read it every night. Just so beautiful”
We show why you should do genotype-level QC on your WGS data
www.biorxiv.org/content/10.1...
Very real quotes about this paper -
“The most exciting, mind-blowing paper of the year!”
“On a par with Fisher 1918”
“I read it every night. Just so beautiful”
Genotype-level quality control substantially reduces error rates in population-scale whole-genome sequencing
Population-scale whole-genome sequencing data will contain many individual-level genotype errors, even after allele-level quality control (QC). We establish the need for genotype-level QC using UK Bio...
www.biorxiv.org
November 10, 2025 at 1:10 PM
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
We’ll be providing our filtered AoU WGS plink pgens for all registered users: watch this space
Reposted by Dr Gareth Hawkes
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
May 27, 2025 at 9:38 AM
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
Come along today and see me and Harry begin to tackle the exponentially increasing population scale WGS data! #ESHG2025 #ESHG25
Last day of #ESHG25 #ESHG2025, make sure to catch two fantastic back-to-back talks from @hls.exeter.ac.uk @drghawkes.bsky.social describing whole genome association analysis and meta-analysis across >500,000 people (Tuesday 11:15 & 11:30, C32)
May 27, 2025 at 7:51 AM
Reposted by Dr Gareth Hawkes
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
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
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
May 26, 2025 at 6:11 AM
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
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
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
May 23, 2025 at 12:08 PM
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
Reposted by Dr Gareth Hawkes
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...
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!
March 24, 2025 at 2:49 PM
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!
Last few days to apply! @exeter.ac.uk
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
tinyurl.com/3wdfc2me
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tinyurl.com
March 14, 2025 at 5:04 PM
Last few days to apply! @exeter.ac.uk
Reposted by Dr Gareth Hawkes
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
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!
lifesciencesphd.unige.ch
February 21, 2025 at 12:06 PM
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
Reposted by Dr Gareth Hawkes
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...
www.biorxiv.org/content/10.1...
www.biorxiv.org
February 26, 2025 at 8:25 AM
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...
www.biorxiv.org/content/10.1...
Reposted by Dr Gareth Hawkes
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...
www.biorxiv.org/content/10.1...
February 26, 2025 at 6:25 PM
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...
www.biorxiv.org/content/10.1...
Reposted by Dr Gareth Hawkes
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...
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...
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
February 25, 2025 at 11:00 AM
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...
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...
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...
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
February 26, 2025 at 4:11 PM
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...
www.biorxiv.org/content/10.1...
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
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...
rdcu.be
February 24, 2025 at 6:26 PM
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
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
tinyurl.com/3wdfc2me
Powered by MHR
tinyurl.com
February 18, 2025 at 12:53 PM
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
tinyurl.com/3wdfc2me
Reposted by Dr Gareth Hawkes
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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tinyurl.com
February 7, 2025 at 11:30 AM
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!
Reposted by Dr Gareth Hawkes
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.
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...
tinyurl.com
January 19, 2025 at 12:37 PM
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.
Probably the best second-post on blue sky I could’ve hoped for
November 21, 2024 at 8:43 AM
Probably the best second-post on blue sky I could’ve hoped for
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!
November 15, 2024 at 6:15 PM
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!