Hannah Maude

🚨 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 🤓👨🏻‍🔬👩🏼‍🔬

Applications are open for 5 fully funded collaborative #MultiSci (iCASE) #PhD projects @imperial_mrcdtp in #interdisciplinary health science. findaphd.com/phds/program/m…

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

📣 Fully funded PhD position available! Join our group at MRC-LMB in Cambridge to uncover how human cells coordinate RNA transcription and splicing. You’ll use biochemical, structural & cellular approaches, including #cryoEM. Apply by 14th April. #PhD mrclmb.ac.uk/careers-and-pe…

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/humanMethylati…

5 tools to visualize genomic datasets 🧵 1. Karyoploter bernatgel.github.io/karyoploter_tu…

** 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/edu… ==> Find out more about the Lab and PI - med.stanford.edu/genomics-of-di…

Now published in Algorithms for Molecular Biology: link.springer.com/article/10.118…. 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.

Come work with me as a Postdoc in Statistical/Computational Genetics/Bioinformatics at University of Copenhagen. See employment.ku.dk/all-vacancies?…

@AmazonUK c'mon now, this arrived with a £1 label literally on the cover 😭

🚀 Unlock better effector-gene reporting! 🧬The PEGASUS Framework introduces FAIR, unified standards for predictions from GWAS & integrative evidence. 📣 Join us & @GWASCatalog Dec 11 | 12–1 PM ET to learn more! 🔎Explore the framework: ebispot.github.io/PEGASUS/

❗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

@renault_uk passenger in a Megan Scenic E iconic (2024) here 👋 - not the first time it has interpreted a 60mph variable limit as 80 (illegal in the UK ✌🏻), any ideas?

Sea creatures spotted in liver multiome data 🐟🪼🦀biorxiv.org/content/10.110… #AcademicTwitter

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/researc…

Loss of ERG function causes lymphatic vessel malformations and primary lymphoedema medrxiv.org/cgi/content/sh… #medRxiv

@PirriDaniela @CebolaLab Likewise ☺️🙏

So happy to share this milestone with @Hammaude from @CebolaLab !

📣I am absolutely thrilled to share the preprint of our manuscript! Our work identifies and characterises novel lymphoedema-associated ERG genetic variants. ERG is a master regulator of lymphatic gene expression! @birdseylab medrxiv.org/content/10.110…

📣 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 @PirriDaniela medrxiv.org/content/10.110…

New online! Tracking protein binding to cis-regulatory elements with PRINT bit.ly/3D2A7ft