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...

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! ✨✨

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.

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 ⬇️

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.

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).

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.

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 👇

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...

🚨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

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.

#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).

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...

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!

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!

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!

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.

📣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...

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!

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

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...

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/.

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

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🧵

Great peer group, a long list of outstanding graduates, no fees, good stipend - we are very proud of the programme.

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!

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

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.

@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!

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...

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 🖥️🧬