Hilary Martin
@hilarycmartin.bsky.social
Group Leader in Human Genetics, Wellcome Sanger Institute
Pinned
Hilary Martin
@hilarycmartin.bsky.social
· Nov 20
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.
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.
November 13, 2025 at 9:48 PM
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.
Reposted by Hilary Martin
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/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...
October 31, 2025 at 8:22 AM
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/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...
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.
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! ✨✨
October 29, 2025 at 9:33 PM
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.
Reposted by Hilary Martin
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! ✨✨
October 28, 2025 at 11:04 AM
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! ✨✨
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.
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.
www.nature.com
October 2, 2025 at 2:46 PM
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.
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.
July 25, 2025 at 9:05 AM
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.
Reposted by Hilary Martin
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 ⬇️
More info from co-first author @olivia-wootton.bsky.social ⬇️
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 👇
"“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 👇
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...
www.medrxiv.org
July 3, 2025 at 8:30 PM
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 ⬇️
More info from co-first author @olivia-wootton.bsky.social ⬇️
Reposted by Hilary Martin
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.
July 2, 2025 at 3:48 PM
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.
Reposted by Hilary Martin
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).
July 3, 2025 at 8:23 AM
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).
Reposted by Hilary Martin
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.
July 3, 2025 at 8:23 AM
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.
Reposted by Hilary Martin
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 👇
"“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 👇
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...
www.medrxiv.org
July 3, 2025 at 8:23 AM
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 👇
"“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 👇
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...
July 3, 2025 at 10:36 AM
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...
Reposted by Hilary Martin
🚨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
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
June 23, 2025 at 4:51 PM
🚨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
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
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...
June 21, 2025 at 8:58 AM
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...
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.
Preprint alert! 🚨
doi.org/10.1101/2025...
Our manuscript on Exome sequencing and analysis of 44,028 British South Asians, using @genesandhealth.bsky.social is now available at @medrxivpreprint.bsky.social!
We present several great results, and I’m thrilled to highlight the pieces I worked on:
doi.org/10.1101/2025...
Our manuscript on Exome sequencing and analysis of 44,028 British South Asians, using @genesandhealth.bsky.social is now available at @medrxivpreprint.bsky.social!
We present several great results, and I’m thrilled to highlight the pieces I worked on:
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity
Genes and Health (G&H) is a biomedical study of adult British-Pakistani and -Bangladeshi research volunteers enriched for autozygosity. We performed whole exome sequencing in 44,028 G&H participants, ...
doi.org
June 12, 2025 at 7:14 PM
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.
#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).
May 26, 2025 at 7:32 AM
#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).
Reposted by Hilary Martin
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...
www.nature.com/articles/s41...
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...
www.nature.com
May 16, 2025 at 7:41 PM
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...
www.nature.com/articles/s41...
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
It's finally out people ✅🗞️! Check out the final version of our work exploring factors influencing the germline mutation rate and spectra on ~10,000 WGS family trios 🧬👨👩👦!
www.nature.com/articles/s41...
www.nature.com/articles/s41...
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...
www.nature.com
May 16, 2025 at 8:15 PM
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
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!
May 9, 2025 at 6:09 AM
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!
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!
📣New from @hilarycmartin.bsky.social & co!
📄Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity
📄Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity
Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity
We leveraged the increased homozygosity in the Genes & Health cohort to perform recessive
association testing between 898 diseases and 10,045,406 whole-genome imputed variants,
as well as 607,981 whol...
www.cell.com
April 30, 2025 at 7:29 PM
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!
Reposted by Hilary Martin
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...
April 3, 2025 at 12:24 PM
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...
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!
In every civilization, people end up sorted into levels of socio-economic status (SES). We explore the history, present, and future of scientific research on the complicated relationship between SES and DNA in @naturehumbehav.bsky.social💰🧬🎓
Link: rdcu.be/efacK
Thread below 👇🏽
Link: rdcu.be/efacK
Thread below 👇🏽
March 26, 2025 at 8:42 PM
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!
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.
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.
Join leading experts working in #RareDisease research at our #GRD25 conference.
📅 Dates: 9-11 April 2025
💭 Share insights in person
Explore the latest #genomics advances accelerating improvements in clinical care for rare disorders, globally.
⏰Secure your place by 11 March: bit.ly/3BpAe44
📅 Dates: 9-11 April 2025
💭 Share insights in person
Explore the latest #genomics advances accelerating improvements in clinical care for rare disorders, globally.
⏰Secure your place by 11 March: bit.ly/3BpAe44
March 4, 2025 at 4:51 PM
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.
Reposted by Hilary Martin
📣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...
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...
February 24, 2025 at 8:42 PM
📣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...
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...