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Hilary Martin

@hilarycmartin.bsky.social
1.6K followers 373 following 65 posts

Group Leader in Human Genetics, Wellcome Sanger Institute

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Hilary Martin @hilarycmartin.bsky.social · 08/09/2026
Check out this new preprint led by Daniel Malawsky in my group who has developed a very cool new method to infer genetic nurture effects unconfounded by parental assortment (RAVEL) www.biorxiv.org/content/10.6....
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Wellcome Sanger Institute @sangerinstitute.bsky.social · 10/07/2026
Using DNA data from UK birth cohorts, researchers have found that rare DNA changes are most strongly linked to cognition in early childhood, while common DNA changes become more influential as children grow. 🧬 bit.ly/4b5w0xh
bit.ly
Links between genetics and cognition change across childhood
New study uncovers how genetics influence children’s cognitive ability as they age.
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Nature Human Behaviour @nathumbehav.nature.com · 10/07/2026
Common and rare genetic variant associations with cognitive performance across development in British birth cohorts
dlvr.it
Common and rare genetic variant associations with cognitive performance across development in British birth cohorts
Nature Human Behaviour, Published online: 10 July 2026; doi:10.1038/s41562-026-02491-8Associations between polygenic indices and cognitive ability in children increase with age while rare damaging variant associations attenuate, with differential effects across the cognitive ability distribution.
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Giacomo Bignardi @giacomobignardi.bsky.social · 14/07/2026
PhD in social science genetics with @dr-appie.bsky.social, @aysuo.bsky.social, et al. Great team, location, and opportunity. Apply. Fast. Do it.
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Hilary Martin @hilarycmartin.bsky.social · 14/06/2026
#eshg2026 My students are presenting posters - please go! Today 12.45pm, John Lin (P16.117) - common variants in rare neurodev conditions/Mendelian imputation/assortment; Alice Grouko @civett.bsky.social (P19.045) on archaic human ancestry in Indonesia(led by @ee-reh-neh, not me!). 1/2
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Hilary Martin @hilarycmartin.bsky.social · 25/02/2026
I have an opening for a staff scientist or bioinformatician in my group at the Sanger Institute (closing date 24 March). Our current projects focus on disentangling rare and common variant contributions to rare neurodevelopmental conditions and to neurodevelopmental and perinatal traits. 1/2
sanger.wd103.myworkdayjobs.com
Bioinformatician/Staff Scientist in Medical Genomics
Do you want to help us improve human health and understand life on Earth? Make your mark by shaping the future to enable or deliver life-changing science to solve some of humanity’s greatest challenge...
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Genetics Society UK @gensocuk.bsky.social · 15/01/2026
Congratulations to Daniel Malawsky, the winner of our 2026 postgraduate Sir Kenneth Mather Memorial Prize for their work with Dr @hilarycmartin.bsky.social! genetics.org.uk/medals-and-p...
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mara lawniczak @marakat.bsky.social · 20/11/2025
a life changing opportunity made possible by the Nobel Prize funds awarded to John Sulston -- the @sangerinstitute.bsky.social runs the Sanger Prize scheme, open to an undergrad from any LMIC to spend 3 months here learning all about genomics. more details here www.sanger.ac.uk/about/study/...
sanger.ac.uk
The Sanger Prize
The Sanger Prize is an outreach competition aimed at undergraduate students who live and study in low or middle income countries
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Hilary Martin @hilarycmartin.bsky.social · 13/11/2025
Happy to have had a small part in this great project on the expression patterns of autism-associated genes in the developing brain, led by @bayraktarlab.bsky.social, showing surprising enrichment in the thalamus. www.biorxiv.org/content/10.1... Genetics analyses by Mahmoud Koko (formerly) in my lab.
biorxiv.org
A spatial transcriptomic atlas of autism-associated genes identifies convergence in the developing human thalamus
Autism is a highly heritable neurodevelopmental condition that manifests across a wide phenotypic spectrum. Rare and de novo loss-of-function mutations strongly predispose to autism and co-occurring d...
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Olivia Wootton @olivia-wootton.bsky.social · 31/10/2025
Pleased that our work on prematurity in developmental disorders is out in Genome Medicine 🎉 urldefense.proofpoint.com/v2/url?u=htt... A big thank you to Patrick Campbell, @hilarycmartin.bsky.social, Elizabeth Radford, and all involved. More in this thread ⬇️ bsky.app/profile/oliv...
urldefense.proofpoint.com
Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders
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Hilary Martin @hilarycmartin.bsky.social · 29/10/2025
Another nice collaboration with @r-rahbari.bsky.social 's lab, PhD work by @isaacgs94.bsky.social on postzygotic mutations in the Genomics England 100,000 project.
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Isaac García @isaacgs94.bsky.social · 28/10/2025
Huge thanks to my supervisors @r-rahbari.bsky.social & @hilarycmartin.bsky.social, our collaborators, and most importantly, the @genomicsengland.bsky.social participants for making this research possible! ✨✨
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Hilary Martin @hilarycmartin.bsky.social · 02/10/2025
Pleased to have contributed to this paper out at @nature.com today from @vw1234.bsky.social and Yira (Xinhe) Zhang showing that the common variant contribution to autism varies substantially by age of diagnosis www.nature.com/articles/s41.... Critical for understanding heterogeneity in autism.
nature.com
Polygenic and developmental profiles of autism differ by age at diagnosis - Nature
A study of several longitudinal birth cohorts and cross-sectional cohorts finds only moderate overlap in genetic variants between autism that is diagnosed earlier and that diagnosed later, so they may represent aetiologically different conditions.
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Hilary Martin @hilarycmartin.bsky.social · 25/07/2025
Thanks to Chris Coates at Uni of Essex for writing this excellent blog about our work on common variants in neurodevelopment conditions www.nature.com/articles/s41..., using data from @genomicsengland.bsky.social , DDD, @usociety.bsky.social , ALSPAC and @clscohorts.bsky.social.
nature.com
Examining the role of common variants in rare neurodevelopmental conditions - Nature
Patients with neurodevelopmental conditions without a monogenic diagnosis have a higher polygenic burden than those with a monogenic diagnosis. Non-transmitted common all...
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Emma Wade @emmaewade.bsky.social · 03/07/2025
Excited to share a new preprint from my time with @hilarycmartin.bsky.social's group 🥳 We found evidence both common and rare genetic variation contributed to early life mental health symptoms. More info from co-first author @olivia-wootton.bsky.social ⬇️
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Chris Wallace @chr1sw.bsky.social · 02/07/2025
Is anyone aware of PhD students having access to #allofus data? We are being told it's impossible. Which seems... impractical... given that students do so much of the research in many places. Please reskeet even if you don't know the answer? Would really like to resolve this barrier for my student.
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Olivia Wootton @olivia-wootton.bsky.social · 03/07/2025
A key methodological advantage is the use of Mendelian imputation to recover missing parental genotypes. This helps mitigate bias associated with non-random ascertainment of genotyped trios in these cohorts, over and above boosting power for association testing (See Extended Data Figure 1 and 2).
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Olivia Wootton @olivia-wootton.bsky.social · 03/07/2025
I’m most excited about our rare variant findings: a higher burden of deleterious protein-truncating variants is associated with increased mental health symptoms. Trio models indicated direct genetic effects on externalising in MCS and on internalising symptoms in ALSPAC.
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Olivia Wootton @olivia-wootton.bsky.social · 03/07/2025
New preprint!🚨 "“The Contribution of Common and Rare Genetic Variation to Emotional and Behavioural Symptoms in Childhood and Adolescence” is out on medRxiv. www.medrxiv.org/content/10.1... Thread 👇
medrxiv.org
The Contribution of Common and Rare Genetic Variation to Emotional and Behavioural Symptoms in Childhood and Adolescence
Genetic factors influence vulnerability to common mental health conditions, but their role in early-life mental health remains understudied. We analysed genotype array and exome sequence data from two...
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Hilary Martin @hilarycmartin.bsky.social · 03/07/2025
New work from our group led by @olivia-wootton.bsky.social and ‪@emmaewade.bsky.social‬ combining new exome sequence with existing genotype data on birth cohorts to look common and rare variant contributions to early-life mental health. www.medrxiv.org/content/10.1...
medrxiv.org
The Contribution of Common and Rare Genetic Variation to Emotional and Behavioural Symptoms in Childhood and Adolescence
Genetic factors influence vulnerability to common mental health conditions, but their role in early-life mental health remains understudied. We analysed genotype array and exome sequence data from two...
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PGC Africa @pgc-africa.bsky.social · 23/06/2025
🚨PGC Africa Monthly Meeting Alert! We are delighted to have Dr @olivia-wootton.bsky.social from Dr @hilarycmartin.bsky.social's group @sangerinstitute.bsky.social join the 5th virtual PGCAfrica meeting of 2025 📆 26th June 2025 ⏰ 2PM GMT|2PM WAT|3PM CAT|4PM EAT 📢 Details in the flyer #PGCAfrica
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Hilary Martin @hilarycmartin.bsky.social · 21/06/2025
New preprint - collab with the groups of @mehurles.bsky.social and @dr-appie.bsky.social. We imputed missing fluid intelligence test scores into ~170k @ukbiobank.bsky.social indivs & showed how this reduces bias and increases power for rare+common variant analyses. www.medrxiv.org/content/10.1...
medrxiv.org
Imputation of fluid intelligence scores reduces ascertainment bias and increases power for analyses of common and rare variants
Studying the genetics of intelligence can help us understand the neurobiology of cognitive function and the aetiology of rare neurodevelopmental conditions. The largest previous genetic studies of int...
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Hilary Martin @hilarycmartin.bsky.social · 12/06/2025
Delighted that the 'flagship' manuscript on our @genesandhealth.bsky.social 44k exomes (British Pakistanis & Bangladeshis) is now preprinted. Great academic-industry collaboration. Lots of new associations (mostly additive, a few recessive) and new insights into homoz knockouts & drug discovery.
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Hilary Martin @hilarycmartin.bsky.social · 26/05/2025
#eshg2025 Today at 2.15pm in Amber 2 I'll be presenting our work on developmental conditions in the 100,000 Genomes Project (Genomics England corporate session). Then at 5.15pm in the Auditorium I'll talk about recessive effects in rare & common disease (consanguinity session).
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Aylwyn Scally @aylwyn-scally.bsky.social · 16/05/2025
Delighted to see this paper out, investigating factors affecting human germline mutation in a cohort of 10,000 families from the UK 100k Genomes Project. www.nature.com/articles/s41...
nature.com
The impact of ancestral, genetic, and environmental influences on germline de novo mutation rates and spectra - Nature Communications
Here the authors analyze de novo mutations in >10,000 parent-offspring trios and find that ancestry and smoking independently associate with mutation rate, but that common genetic variants likely c...
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Hilary Martin @hilarycmartin.bsky.social · 16/05/2025
Congratulations to @isaacgs94.bsky.social and Seongwon Hwang whose PhD work on factors influencing de novo mutation rates and patterns in 10,000 trios is now out in @natcomms.nature.com . We showed an association with ancestry and smoking but no significant SNP heritability. 1/2
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Hilary Martin @hilarycmartin.bsky.social · 09/05/2025
Looking forward to attending #GeneForum2025 in Tartu, Estonia Sept 9-10 and learning more about @estbiobank.bsky.social. Thanks @kauralasoo.bsky.social for the invitation!
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Hilary Martin @hilarycmartin.bsky.social · 30/04/2025
Out today in AJHG, this work from my (recently graduated) student Teng Heng on recessive effects in 44k British South Asians from the Genes & Health project @genesandhealth.bsky.social . She found 185 independent hits of which >40% were novel. Worth looking for these in your own cohorts!
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Caroline Wright @carolinefwright.bsky.social · 03/04/2025
Come and work with us - 2 Graduate Research Assistant positions available in genomic medicine, with a particular focus on variant interpretation and data analysis. Part of the Wellcome-funded PARADIGM project, and based in beautiful Exeter UK! jobs.exeter.ac.uk/hrpr_webrecr...
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Hilary Martin @hilarycmartin.bsky.social · 26/03/2025
Pleased to have been able to make a modest contribution to this piece about the genetic contributors to and consequences of socioeconomic status, initiated and led by @dr-appie.bsky.social . Share with your social science friends!
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Hilary Martin @hilarycmartin.bsky.social · 24/03/2025
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.
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Hilary Martin @hilarycmartin.bsky.social · 04/03/2025
The deadline for signing up for Genomics of Rare Disease is 11 March - join us! I'll be presenting insights into the genetics of rare neurodevelopmental conditions from population-based cohorts (UK Biobank + birth cohorts). Great international speaker line-up.
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Antonis Antoniou @antonis02.bsky.social · 24/02/2025
📣CanRisk v.3 for breast and ovarian cancer risk prediction released today www.canrisk.org Includes 1️⃣ Adaptations to the U.K. ethnically diverse population: Pre-print: doi.org/10.1101/2025... 2️⃣ Continuous measures of mammographic density: Pre-print: doi.org/10.1101/2025...
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Hilary Martin @hilarycmartin.bsky.social · 21/02/2025
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!
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Hilary Martin @hilarycmartin.bsky.social · 16/02/2025
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...
sciencedirect.com
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…
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Hilary Martin @hilarycmartin.bsky.social · 04/02/2025
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/.
jobs.cam.ac.uk
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.
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Hilary Martin @hilarycmartin.bsky.social · 19/12/2024
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
lpshg.com
LPSHG – Leena Peltonen Shool Of Human Genomics
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Sarah Finer @sarahfiner.bsky.social · 26/11/2024
It’s a big day for @genesandhealth.bsky.social @samcbhodgson.bsky.social @moneeza-ks.bsky.social Genes & Health, with @ Sam Hodgson, Moneeza Kalhan Siddiqui and I, as we publish our paper rdcu.be/d1vj0 on the genetic basis of #type2diabetes & #gestationaldiabetes (#T2D and #GDM) in south Asians. A🧵
rdcu.be
Genetic basis of early onset and progression of type 2 diabetes in South Asians
Nature Medicine - In a cohort of 50,556 South Asian individuals, partitioned polygenic scores helped identify genetic susceptibility to insulin deficiency and unfavorable fat distribution as key...
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Leopold Parts @leopoldparts.bsky.social · 25/11/2024
Great peer group, a long list of outstanding graduates, no fees, good stipend - we are very proud of the programme.
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Jillian Hastings Ward @jillianhw.bsky.social · 20/11/2024
This was an important new step in making scientific research findings more accessible to the people whose data was powering the discoveries 🏆 It takes time, but it's so valuable for all involved. Bravo!
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Gerome Breen @psychgenomics.bsky.social · 20/11/2024
This is very interesting and highly relevant paper to clinical genetics and rare disease researchers. I wrote the accompanying News & Views piece. Free sharing link here: rdcu.be/d0VlK
rdcu.be
Common genetic variants contribute more to rare diseases than previously thought | Nature
In rare diseases, rare mutations have long been thought of as the only contributor. Genetic analyses of people with such conditions now suggest that the effects of common genetic variants can stack up and contribute to disease risk. Assessing the influence of common mutations on rare disease risk.
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Hilary Martin @hilarycmartin.bsky.social · 20/11/2024
My group's work dissecting the contribution of common variants to rare neurodevelopmental conditions is now out at nature.com/articles/s41..., led by co-first authors Qinqin Huang (not yet on blue sky) and @emiliewigdor.bsky.social . See below for Emilie's tweetorial.
nature.com
Examining the role of common variants in rare neurodevelopmental conditions - Nature
Patients with neurodevelopmental conditions without a monogenic diagnosis have a higher polygenic burden than those with a monogenic diagnosis. Non-transmitted common all...
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Hilary Martin @hilarycmartin.bsky.social · 20/11/2024
@vw1234.bsky.social (Varun Warrier) and I are advertising a PhD studentship at Cambridge/Sanger to be supervised by both of us, focused on the combined role of common and rare genetic variants in mental health. Links in Varun's thread. Please share!
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Matt Coelho @mattcoelho.bsky.social · 19/11/2024
Applications are now open for the Sanger prize! A 3 month placement - undergraduates from low and middle income countries encouraged to apply www.sanger.ac.uk/about/the-sa...
sanger.ac.uk
The Sanger Prize Competition 2025
Sanger Prize competiton 2025 for undergraduates interested in genomics, who are from low- and middle-income countries
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Nicky Whiffin @nickywhiffin.bsky.social · 15/11/2024
I couldn't spot a starter pack for rare disease / clinical genomics, so I started one: go.bsky.app/SUWZ9Hw Very much a work in progress, and biased by who I have already found here, so please suggest people to add! Self-nominations encouraged. #ClinicalInformatics #genomics #bioinformatics 🖥️🧬
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