Emilie Wigdor

Congratulations, Hilary!! Well deserved!

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...

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”

🚀 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...

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...

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

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...

✨ 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...

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 🤩

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!

A flyer advertising four talks and one poster: Yuyang Chen - 11:30am Saturday 24th; talk (C01) - De novo variants in small open reading frames harbour new rare disease diagnoses Anthony McGuigan - 6:45pm Saturday 24th; talk (C09) - Gene knockouts across 120,404 individuals for novel rare disease gene discovery François Lecoquierre - 7:15pm Saturday 24th; talk (C09) - A map of predicted pseudoexons in human genes Hyung Chul Kim - 1pm Sunday 25th; poster (P18.006.A) - Rare variant association study reveals small open reading frames (smORFs) as novel regulators of cardiometabolic diseases Nicky Whiffin - 10:30am Monday 26th; talk (C29) - Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

It's #eshg2025 #eshg25 time 🥳

Here is where you can catch the team over the next few days.

Please go and say hi!

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...

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

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

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 🧬💻

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

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

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

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.

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

Lined paper with the heading 'Featured Member'. Below this title there are several bullet points. Bullet point 1 reads Data Scientist. Bullet Point 2 reads Sanders Group. Bullet point 3 reads Builds and supports data pipelines for researchers. A photo of the featured member, Michael Griffiths, is displayed to the right of the bullet points in a Polaroid style photo frame. The Institute of Developmental & Regenerative Medicine logo is displayed at the bottom of the image.

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

Thanks, Sarah!!

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...

Congratulations, Nicky!!! So well deserved - thrilled to bits for you! 🍾🎉

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

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.

Thanks, Kartik!! 😊 Still remember us debugging code for this over Zoom in the lockdown days. Thank god for post-docs like you and @qinqinhuang.bsky.social ♥️

Thanks, Leo!

Thanks, Varun! It was great working together on this—your contributions were really appreciated, and they made a big difference!

Thanks so much, Joanna! Great to hear that the FAQ and lay summary are useful, too—starting to untangle this has definitely been a team effort!

Thank you - and congratulations to you, too! What a great coincidence!

Thanks, Tinca! So glad you like the FAQ!! 😊