📣 New preprint 🧵: we profiled post-mortem human BA22 (speech cortex) in autism across 100 donors using single-nucleus multiomics (~500,000 nuclei), integrating RNA + chromatin accessibility. Shout-out to my co-first authors Varun Suresh and Yuhan Hao: www.biorxiv.org/content/10.6...

Super excited that our two companion papers on saturation genome editing (SGE) of RNU4-2 and discovery of a novel recessive neurodevelopmental disorder (NDD) were published yesterday 🥳 SGE experiment: www.nature.com/articles/s41... Recessive NDD characterisation: www.nature.com/articles/s41... 🧵

Latest research from my group. We activated BDNF protein expression by disrupting a repressive uORF using a CRISPR base editing strategy: www.sciencedirect.com/science/arti... #OxfordPaediatrics #IDRMOxford #BDNF #uORF #CRISPR #BaseEditing

Targeted BDNF upregulation via upstream open reading frame disruption

To understand the relative contributions of 5ʹ UTR elements to translation output, we performed a comprehensive analysis of upstream open reading fram…

sciencedirect.com

Why do some individuals defy their polygenic score? In the largest study of its kind (402k UKB individuals; 7 continuous traits + 3 diseases), we asked: If your phenotype deviates from common-variant polygenic score prediction, what's driving that difference? www.medrxiv.org/content/10.6...

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”

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...

biorxiv.org

🚀 Very excited to share the first major work from my PhD!! We combined MPRA and CRISPRa in excitatory neurons to test and validate cis-regulation therapies for hundreds of haploinsufficient neurodevelopmental disorder genes. 🧬🔬 www.biorxiv.org/content/10.1...

Read about our recent paper here: www.bdi.ox.ac.uk/news/first-d...

First direct evidence links gene to fat storage, hinting at new obesity therapies

A new study, involving researchers at the Big Data Institute, has shown for the first time that a little-known gene, SLTM, plays a direct role in how fat is stored inside human cells. While large popu...

bdi.ox.ac.uk

✨ NEW PUBLICATION ✨ We combined large-scale human genetics with CRISPR-Cas9 editing in fat cells to identify genes linked to fat accumulation. Check out the full study, now published in AJHG! www.cell.com/ajhg/fulltex...

Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution

Overall and tissue-specific fat accumulation are associated with altered risk of cardiometabolic disease and mortality. By combining exome-wide association analysis of traits related to obesity and fa...

cell.com

New app deadline August 1st 📣 If you're interested in human genetics, stats, big data, and/or ML, this is in an incredible opportunity 🧬💻 ✨Fully funded ✨ PhD at Oxford with @astheeggeggs.bsky.social, available to international students 🌎🌍🌏, embedded in the new and exciting SMARTBiomed Centre 🤩

Duncan Palmer@astheeggeggs.bsky.social · last yr.

Come join us! We have an exciting PhD opportunity in statistical genetics at the University of Oxford. More info here: bit.ly/biomedDPhil 🗓️ App deadline: June 30th 2025. Please share!

Incredible opportunity for international and domestic students to do a PhD in stat gen at Oxford in a dynamic, engaging, fun and supportive environment! 🤩🧬🎓 Apply by June 30th for an October 2025 start!

Duncan Palmer@astheeggeggs.bsky.social · last yr.

Come join us! We have an exciting PhD opportunity in statistical genetics at the University of Oxford. More info here: bit.ly/biomedDPhil 🗓️ App deadline: June 30th 2025. Please share!

It's #eshg2025 #eshg25 time 🥳 Here is where you can catch the team over the next few days. Please go and say hi!

Our gene discovery project on age at onset of walking is out today! Find the paper here www.nature.com/articles/s41... Huge thanks to the cohorts, collaborators & coauthors, in particular first author Dr Anna Gui 1/n

Genome-wide association meta-analysis of age at onset of walking in over 70,000 infants of European ancestry - Nature Human Behaviour

A genome-wide association study of age at onset of walking in over 70,000 infants found 11 significant loci. Age at onset of walking showed SNP heritability of 24%, a reliable polygenic score and gene...

nature.com

Very excited about this important piece of work with @angelicaronald.bsky.social characterising gene associations with age of walking onset. We also show using dHCP data that these are related to volume in key brain motor regions (like the deep grey nuclei and cerebellum) even as a newborn infant

Angelica Ronald@angelicaronald.bsky.social · last yr.

Our gene discovery project on age at onset of walking is out today! Find the paper here www.nature.com/articles/s41... Huge thanks to the cohorts, collaborators & coauthors, in particular first author Dr Anna Gui 1/n

We have two vacancies for Junior Research Fellows to join the CPM team next academic year. Please repost and send to anyone who might be interested. shorturl.at/DOV5s

Delighted to share that the revised version of this work on the genetic basis of infertility is now out in @naturegenet.bsky.social ! Give it a read and let us know what you think - rdcu.be/ehEgG 🧬💻

Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum

Nature Genetics - Genome-wide analyses identify variants associated with infertility and reproductive hormone levels but find limited polygenic overlap between reproductive hormone levels and...

rdcu.be

Samvida Venkatesh@samvidav.bsky.social · 3y ago

Infertility affects 1 in 6 couples across the globe, but its cause remains unknown in over 30% of cases 😔 In our latest work in the Lindgren group, we discover rare and common genetic variants associated with infertility - www.medrxiv.org/content/10.1... My first bsky thread below!⬇️

This is going to be a great lecture, do come along to the Sheldonian this afternoon to hear @philipcball.bsky.social

Centre for Personalised Medicine@cpmoxford.bsky.social · 2y ago

There's just 1 week to go until our Annual Lecture from @philipcball.bsky.social at the Sheldonian Theatre, 'How life works: Dealing with biology’s changing narrative'. All welcome! You can register here: cpm.ox.ac.uk/event/cpm-an...

I’m racing a Half Ironman triathlon this June. 2km swim, 90km cycle, 20km run and raising money for the Meningitis Research Foundation. Meningitis has ~2.5 million cases and 250,000 deaths annually predominantly among children. Any donation would be great! gofund.me/a958252f

Donate to Half Iron(wo)man for Meningitis Research, organized by Sophie Belman

I will be racing my first Half Ironman triathlon in Zurich this June. It includ… Sophie Belman needs your support for Half Iron(wo)man for Meningitis Research

gofund.me

V. pleased to see this work out — huge effort from 10s of analysts, 100s of scientists, 1000000s of participants. 🤞 a key resource in future MDD research. 🤲 to @markjamesadams.bsky.social, @mcintosh2001.bsky.social and @cathrynlewis.bsky.social for leading. Read all about it below.

Psychiatric Genomics Consortium (PGC)@pgcgenetics.bsky.social · 2y ago

1/n Our multi-ancestry #GWAS meta-analysis of major depression is now published in @cellpress.bsky.social. www.cell.com/cell/fulltex... A thread 🧵:

Ever get lost searching through genetic literature? We've built a new interface for bioRxiv+medRxiv to directly browse preprint findings on the genome! (1/N) Try genorxiv: sitlabs.org/genorxiv

Meet Michael Griffiths, our most recent featured member. Currently a Data Manager in the Sanders Group, Michael's varied career includes writing code on research vessels around the world to help understand the effects of oceans on the climate. Find out more here: lnkd.in/erJXmd6k

📢 Huge News! 📢 The MRC has launched two centres of research excellence to transform gene therapies: IDRM’s Paul Riley will co-direct the MRC/BHF CoRE in Advanced Cardiac Therapies & Stephan Sanders will direct the MRC CoRE in Therapeutic Genomics. Read more: lnkd.in/g-3CmAsP #GeneTherapies

A mere starting point, we're sure. Please use, and add to. go.bsky.app/KuUsm35

Congratulations to @nickywhiffin.bsky.social on being awarded the Balfour Lecturer! Her innovative contributions on the role of genetic variants in rare diseases are shaping the future of research and discovery. We look forward to her inspiring lecture! genetics.org.uk/medals-and-p...

Honoured to be recognised by @gensocuk.bsky.social and humbled to be named alongside so many incredible geneticists 🤯🧬 But science is a team sport: this is really down to, and for, my absolutely incredible team who inspire, drive, and motivate me every day 🌟 #teamWork #youGuysRock 1/2

Genetics Society UK@gensocuk.bsky.social · 2y ago

Congratulations to @nickywhiffin.bsky.social on being awarded the Balfour Lecturer! Her innovative contributions on the role of genetic variants in rare diseases are shaping the future of research and discovery. We look forward to her inspiring lecture! genetics.org.uk/medals-and-p...

Common variants don’t contribute to rare diseases, right? Wrong! Wonderful work published in Nature by @hilarycmartin.bsky.social, Qinqin Huang, @emiliewigdor.bsky.social and others in the Human Genetics Programme at Sanger showing that common vars contribute to rare neurodevelopmental diseases.

Hilary Martin@hilarycmartin.bsky.social · 2y ago

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.

Great to see this paper out in Nature today! One aspect that I worked on was the curious result that the education polygenic score predicts neurodevelopmental conditions but this prediction disappears within family.

Emilie Wigdor@emiliewigdor.bsky.social · 2y ago

📣 Big news! Our tag-team effort on common variants in rare neurodevelopmental conditions is now out in Nature 📣 Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 www.nature.com/articles/s41...

Common genetic variants contribute more to rare diseases than previously thought www.nature.com/articles/d41... (note that the converse is also true!!!)

Common genetic variants contribute more to rare diseases than previously thought

Assessing the influence of common mutations on rare disease risk.

nature.com

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!

Emilie Wigdor@emiliewigdor.bsky.social · 2y ago

This paper covers concepts that aren’t usually discussed in the context of rare (single-gene) conditions. We included EasyRead and lay summaries, as well as an FAQ—written with input from patients and families. Find them in Supplementary Note 1!

I'm here now! Excited to share our latest research published in @Nature 🎉 Huge thanks to my amazing supervisor @hilsomartin and co-first @EmilieWigdor for their incredible support!

Hilary Martin@hilarycmartin.bsky.social · 2y ago

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.

📣 Big news! Our tag-team effort on common variants in rare neurodevelopmental conditions is now out in Nature 📣 Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 www.nature.com/articles/s41...

a couple of cartoon characters standing next to each other with one wearing a purple earring

Alt: a couple of cartoon characters standing next to each other with one wearing a purple earring

media.tenor.com