New preprint from another part of my PhD! 📝👇 Some mutations arise after fertilisation 🧬, so early they can appear in both a parent’s body and their germ cells. By analysing family trio genomes 👪, we built one of the largest catalogues of these “hidden” inherited variants yet. tinyurl.com/mvns2ytv

Landscape of parental postzygotic mutations in >11,000 rare disease trios

Postzygotic mutations (PZMs) arising post-fertilisation, prior to primordial germ cell specification, may be subsequently inherited by both somatic and germ cells, causing somatic mosaicism in the par...

tinyurl.com

The final pre-print of the IBDverse project is out now ✨ - looking at the genetics of IBD 🧬 Led by the amazing @tobioinformatics.bsky.social and @bradleyomics.bsky.social

Tobi Alegbe@tobioinformatics.bsky.social · last yr.

🚨New preprint just dropped 🚨 medrxiv.org/content/10.1101/2025.06.24.25330216 The main output from my PhD is finally public and we’re SUPER excited about the findings! If you’re interested in what we learnt about IBD with a massive 700+ sample sc-eQTL dataset of the gut, read on!

🚨 SUPER EXCITED to share our new preprint on the mucosal and circulatory immune landscape of Crohn’s disease! 🩸 Blood is commonly used in biomarker discovery and drug development, but how well does it reflect what's actually happening in the gut? 👀 🧵 1/10 🔗 www.medrxiv.org/content/10.1...

Tissue-specific and circulatory immune signatures of mucosal inflammation in Crohn's disease

Crohn's disease (CD) is a heterogeneous disease characterized by chronic inflammation of the gastrointestinal tract driven by an aberrant immune response. To understand the immune mechanisms underlyin...

medrxiv.org

All these measures will not only affect US-based science but worldwide (eg. developing countries). Guess so much about equity in genomics? Hopefully, other (maybe non-US) alternatives arise from this 🙏🏻

Alejandra Medina-Rivera@alemedinarivera.bsky.social · last yr.

Within the very few international mechanisms that had grant schemes for developing countries were the CZI grants... seams that that door is closing. I'm sad cause I felt it was a safe community

New paper alert 📢! (Cell) @cp-cell.bsky.social - How does immune responses to solid tumors vary by age and tumor characteristics in children?! www.cell.com/cell/fulltex... 🧵1/8

"Women full professors are 19% more likely than men at the same career stage to leave academia, as compared with 6% for women assistant professors and 10% for associates."

Women faculty feel ‘pushed’ from academia by poor workplace climate

The gender gap in faculty attrition worsens after tenure, according to a new study

science.org

This is really horrific. These single cell reference atlases are widely used as is to train all kinds of models! This is one of the reasons I've constantly harping about uniform reprocessing & extremely careful QC of large atlases. 1/

Tomàs Montserrat Ayuso@tmontsay.bsky.social · 2y ago

scRNA-seq has revolutionized biology, but it’s not without challenges. We uncovered significant quality issues in widely used reference cell atlases like the Human Cell Atlas and Tabula Sapiens. Up to 85% of cells in some datasets are low-quality or misidentified! 2/8

Today, I got the opportunity to present at #ISCBLA2024 about how we are using single-cell to identify circulating and tissue specific signatures in Crohn's disease 👩🏻‍💻

Hi everyone! Here's a starter pack of genomics scientists trained in Mexico 🇲🇽 including from #LCG-UNAM #LCG-EJ-UNAM undergrads, #RMB / #NNB-UNAM / @cdsbmexico.bsky.social workshops, and more It's in an early stage and I'm trying to get more to join us here at #AcademicSky go.bsky.app/5bWBN5V