I am excited to share that @wbickmor.bsky.social and I are offering a competitively funded PhD project on promoter diversity in vertebrates! www.findaphd.com/phds/project...

Know a super awesome postdoc who wants to come and work in a gorgeous city full of exciting science and wonderful people? We are recruiting! 💻 🧬🏴󠁧󠁢󠁳󠁣󠁴󠁿 elxw.fa.em3.oraclecloud.com/hcmUI/Candid...

Our final post for International Day of Women & Girls in Science is by @margotwyrwoll.bsky.social: "In my day-to-day work, I promote inclusion by mentoring early career researchers, being open about my own career path & advocating for fair recruitment and promotion processes." #EveryVoiceInScience

We are looking for the last ever intake of HGU PhD students to start in September. If you are passionate about biomedical research and are interested in doing a PhD, please apply by 11 January. Find out more here 👉 edin.ac/4srdd6t Apply here 👉https://edin.ac/49aBgPz

It is a big day for me : a 🧵🪡 For the last five years I have had the absolute honour of being a postdoc in the 💜INCREDIBLE🩷 Computational Rare Disease Genomics group at the Nuffield Department of Medicine (@ndm.ox.ac.uk @ox.ac.uk), Uni. of Oxford (@ox.ac.uk).

I am super proud to present our new manuscript “Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores” www.medrxiv.org/content/10.1...

I learned so much from this work and I hope that and discoveries like this can make a real difference to the lives of people living with #RareConditions. Please do share! 😊 www.medrxiv.org/content/10.1...

The headlines? 1) Variants on both copies of #RNU4-2 cause a recessive neurodevelopmental disorder with prominent speech delay 2) One of the hallmarks is distinct white matter changes on MRI 3) It is clinically and genetically distinct from #ReNU syndrome www.medrxiv.org/content/10.1...

An awesome piece of work by @alexblakes.bsky.social, @rociorius.bsky.social, @nickywhiffin.bsky.social and team! I am super excited to see more emerging from this tiny, but mighty gene, and am overjoyed at the implications this has for the rare disorders community ❤️

3/ The review outlines how UTR variants cause disease, such as: - Create or remove upstream AUGs (uAUGs) - Alter splicing - Alter polyadenylation - Interfere with miRNA or protein binding

This is such an awesome review paper from @nechamawieder.bsky.social! UTRs are more than just 'buffers' for the coding sequence - they contain a wealth of important regulatory features!

You seem’d of late to make the law a tyrant

Want a Friday mood boost whilst also raising awareness of rare disorders? Then this fresh drop from the band of one of the GEL participant panel members is for you! ♥️🎶♥️ Play it loud, share it widely! (Beware - it is _extremely_ catchy!) open.spotify.com/album/1f2CAX...

Love to my trans sisters, always. #TransRightsAreHumanRights

if you are a cis person it costs you nothing to just say today that you see & hear your trans sisters & brothers & others over in the UK today -- and around the world, too, knowing that rulings like today's ripple out in ugly ways.

I am delighted to share with you the news that our shiny new paper has hit the shelves in Genome Medicine!! link.springer.com/article/10.1... Key points (A 🧵):

We're quite excited about this story as it showcases the power of SGE to dissect non-coding genes and to uncover new disease associations and diagnoses. This has, indeed, been an excellent collaboration...

🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2: www.medrxiv.org/content/10.1... A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk 🧬🖥️🩺 🧵1/12

This is excruciatingly painful to read, and also a really powerful reminder that the participants are always the heart of any study ♥️

Super late to rare disease weekend, but how awesome is this lady! A stellar scientist, advocate for the rare disease community, mentor, & person. As a rare human, I’m so glad that people like Nicky are doing their absolute best for the rare condition community ♥️ @nickywhiffin.bsky.social

I had the honour of accompanying the wonderful Yuyang Chen to the Genetic Alliance #rareDiseaseDay2025 reception today. It was fantastic to meet so many incredible people, and hear such powerful stories. Read the anthology “More than you can imagine” here: geneticalliance.org.uk/campaigns-an...

Non Science post - I tried to book a GP appointment. They now use an online system requiring an online consultation. This includes a bot that suggests some vaguely horrifying possible diagnoses, and many irrelevant questions. I did submit it - many won't. I still don't have an appointment.

If you have any questions about working as an editor at Nature Portfolio, please don't hesitate to reach out.

Failure is a cornerstone of scientific research, but it still feels bad. Here is a short article I wrote on how to mentally deal with "failed" experiments. Does a truly "failed" experiment actually exist?? @academic-chatter.bsky.social #academicsky #microsky elisagranato.com/phd-tips-dea...

Wonderful - absolutely wonderful! Can we replace her FRS with an award? 🏆 www.theguardian.com/technology/2...

I often think it, but it is worth saying aloud - every day I am thankful for beepr ❤️ www.r-project.org/nosvn/pandoc...

🧬 🖥️ For our genetics/genomics friends visiting #ASHG23, you can follow the conference's conversation on this feed: bsky.app/profile/did:... Just use #ASHG23 (or #ASHG2023) to post to the feed.

Replication stress underlies genomic instability at CTCF/cohesin-binding sites in cancer https://www.biorxiv.org/content/10.1101/2023.10.24.563697v1

Penn State BMB is hiring! Two tenure-track/tenured positions. One in Gene Regulation: psu.wd1.myworkdayjobs.com/PSU_Academic... Second in Cryo-EM/Cryo-ET psu.wd1.myworkdayjobs.com/en-US/PSU_Ac... #WomenInSTEM