PhD | A little bit obsessed with science | Postdoc @ImperialCollege researching regulatory genomics and metabolic disease | 👩🏼🔬🧬📚🍫 Host of @DNAandPod 🎙
🚨 We're live on Spotify 😍🧬!!! @angelos_mas thanks for being the best co-host 👌🏻 we'll be discussing DNA and healthcare for the foreseeable future, so please do follow us @DNAandPod and join in the conversation 🤓👨🏻🔬👩🏼🔬
The first episode of DNA& is now live! Tune in now to hear us discuss DNA and the UK's Genomic Healthcare Service 🧬🎙👩🏼🔬👨🏻🔬
Thank you to @GenSocUK for supporting DNA& 🙏🏻
open.spotify.com/episode/48C…
Today in @natBME we report an in vivo base editing strategy that corrects a common disease-causing mutation and rescues pathology in a mouse model of Zellweger spectrum disorder (ZSD) and restore peroxisomal function in patient derived cells. This work highlights the promise of precision genome editing for treating peroxisomal biogenesis disorders.
1/13
To understand most genetic signals for human disease that are located in non-coding regions, we will need to explore their effects on gene expression at the single-cell level.
Two new valuable resources apply this in brain tissue and neurological disease👇
We are excited to announce the release of the Human Methylation Atlas Summary and Signals tracks for hg38 and hg19. The tracks display genome-wide DNA methylation profiles across 39 primary human cell types from 205 healthy tissue samples.
Learn more at bit.ly/humanMethylationAtlas…
** OPPORTUNITIES FOR HIGHLY MOTIVATED POST-DOCS TO JOIN THE TEAM **
==> Find out more about life at stanford in the department of Peds as a pos-doc med.stanford.edu/pediatrics/…
==> Find out more about the Lab and PI - med.stanford.edu/genomics-of…
Now published in Algorithms for Molecular Biology: link.springer.com/article/10…. Key message: a tiny CNN model with 7k parameters can capture main splice signals across vertebrates insect and halves the minimap2 & miniprot junction error rate. I always use this new feature now.
Preprint on "Improving spliced alignment by modeling splice sites with deep learning". It describes minisplice for modeling splice signals. Minimap2 and miniprot now optionally use the predicted scores to improve spliced alignment.
arxiv.org/abs/2506.12986
❗I’m hiring a post-doc computational data analyst to join my group at Imperial College London 🎉
You’ll help deliver hashtag#MetricT1D, a real-world data project on type 1 diabetes that we’ve just had generously funded by Breakthrough T1D.
🏁 What we’re offering:
- 12-month post, likely to extend to 24 months
- Remote working possible
- Chance to shape analyses from day one, take a leadership role and publish
- Supporting another post-doc and data manager on the project team
What you bring:
* PhD in bioinformatics, biostatistics, epidemiology, computational sciences
* Experience in pharmaco-epidemiology
* Years of experience analysing healthcare datasets
* Statistical knowledge
* Energy, curiosity, and the desire to work closely with me and a fun team
✅ Job spec: lnkd.in/ef6u_knU
✅ Apply here:
lnkd.in/eDixm9GN
Feel free to share or tag someone who should see this.
#Type1Diabetes#DataScience#Epidemiology#RWD#Jobs#Hiring
Exciting news! The Genetics Society & @BBSRC are teaming up to launch Research Access Placements (RAPs), offering fully paid summer research internships for undergrad students from underrepresented backgrounds.
Deadline for applications: 14 April.
genetics.org.uk/grants/resea…
📣 Excited to share our preprint!! Despite ERG being present in all endothelial cell types, its loss causes Primary Lymphoedema? In a huge team effort, we characterise how - spoiler - ERG is essential for the lymphatics @birdseylab@CebolaLab@PirriDanielamedrxiv.org/content/10.1101/…