Anne Goriely
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agoriely.bsky.social
Anne Goriely
@agoriely.bsky.social
Human genetics, rare disease and de novo variant detection | selfish selection | mosaicism | cell competition | paternal age effects | spermatogenesis | testis
@University of Oxford @MRC- WIMM
Reposted by Anne Goriely
Checkout this article I found at PLOS: dx.plos.org/10.1371/jour...

We are trying to set standards -
Expectations for papers performing Mendelian randomization analyses
dx.plos.org
July 17, 2025 at 6:45 PM
Reposted by Anne Goriely
Challenge of the best kind. Many thanks to my co-lead Dr Minna Jeffery & fellow grant holders @agoriely.bsky.social @lisahinton.bsky.social and our integral co-production panel: Marysia Price-Nowak, Arti Patel, Francesca Wicks, Jon Wells, Dr Shwetha Ramachandrappa, Alexa Gummow & others who helped!
Have you ever considered using theatre to connect your research with the public?

Ali Kay (@genomics-ali.bsky.social) from the @gorielylab.bsky.social at the MRC WIMM has co-led a project that utilised theatre to explore a couple’s experience of a genetic diagnosis in their child.

Read more 👇
Making it Personal – Engaging the public through theatre
Innovative public engagement project explores the intersection of cutting-edge science and the raw honesty of the stage.
www.imm.ox.ac.uk
July 15, 2025 at 11:06 AM
Reposted by Anne Goriely
Congratulations to @agoriely.bsky.social on being awarded the Spinoza chair by @amsterdamumc.bsky.social 🎉

In June, Prof Goriely will give her Spinoza lecture on how new genetic mutations arise in the testes, their increase in frequency as men age, and how they can lead to serious genetic diseases.
May 21, 2025 at 8:34 AM
Reposted by Anne Goriely
For International Women's Day tomorrow, we asked some of our female scientists, including @agoriely.bsky.social & @sumanasharma.bsky.social, to reflect on why this day is so important, the barriers and biases women can face in their careers, and which women have inspired them.

#IWD2025
International Women's Day at the MRC WIMM
YouTube video by MRC Weatherall Institute of Molecular Medicine
youtu.be
March 7, 2025 at 12:10 PM
Reposted by Anne Goriely
A fantastic trip to King George V college in Southport for #RareDiseaseDay for our "We are all Mutants" workshop! Students discussed the criteria for inclusion of diseases in the newborn screening program & assessed the ethical dilemmas with whole genome sequencing. #Genomics @cpmoxford.bsky.social
March 3, 2025 at 4:55 PM
Reposted by Anne Goriely
Learning to catch a wave between sessions #lornegenome #lornegenome2025
February 17, 2025 at 4:50 AM
Reposted by Anne Goriely
Nature should have a bluesky button!
January 25, 2025 at 8:27 AM
Official lab account @gorielylab.bsky.social
Follow us there if you want to know what we are up to!! 🧬
January 24, 2025 at 1:16 PM
Reposted by Anne Goriely
NEW: @genomics-ali.bsky.social & @agoriely.bsky.social have been awarded funding for a new community engagement project, which will use theatre to explore public perception of a new form of genetic testing.

Read more: buff.ly/4jkEens

This project is also supported by @cpmoxford.bsky.social
Funding awarded for new theatre-based community engagement project
Alison Kay and Anne Goriely, together with Minna Jeffery (St. Anne’s College) and Lisa Hinton (Nuffield Dept. of Primary Care Health Sciences), have won an award from the University of Oxford’s PCER F...
buff.ly
January 23, 2025 at 11:34 AM
Reposted by Anne Goriely
📣 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
November 20, 2024 at 4:03 PM
Reposted by Anne Goriely
Resharing here a recent X post. In this preprint, we introduce an improved version of NanoSeq, a duplex sequencing protocol with <5 errors per billion bp in single DNA molecules, and use it to study the somatic mutation landscape of oral epithelium in >1000 people. 1/ www.medrxiv.org/content/10.1...
Somatic mutation and selection at epidemiological scale
As we age, many tissues become colonised by microscopic clones carrying somatic driver mutations ([1][1]–[10][2]. Some of these clones represent a first step towards cancer whereas others may contribu...
www.medrxiv.org
November 20, 2024 at 2:28 PM
Reposted by Anne Goriely
To all you scientists in training: there’s a podcast that explores the creative process of amazing scientists. Check it out and please subscribe!
Apple Podcasts: podcasts.apple.com/us/podcast/n...
Spotify: open.spotify.com/show/6berzd2...
September 4, 2023 at 8:36 PM
Reposted by Anne Goriely
Doing good science is 90% finding a science buddy to constantly talk to about the project.
November 9, 2024 at 10:53 PM
Reposted by Anne Goriely
Inspired by the other amazing starter packs - here's one for cancer researchers!

I tried to make this broad - from immunology to genomics to cell biology and so much more..

This list also includes organizations & institutes supporting cancer researchers 🧪🔬⚕️🩺

Hope its useful!

go.bsky.app/FEoaJMc
November 14, 2024 at 9:44 PM
Reposted by Anne Goriely
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 🖥️🧬
November 15, 2024 at 10:30 AM