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Émeline Favreau

@emelinefavreau.bsky.social
79 followers 446 following 7 posts

Computational Biologist for CG-TIC, a collaboration between University of Cambridge and GSK. Wrangling Chronic Kidney Disease data: omics & Electronic Health Records

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Émeline Favreau @emelinefavreau.bsky.social · 28/08/2026
I’m terribly sad to share that Maëlyn, my niece who lived with #Batten disease, passed away on Sunday. This ultra rare neurodegenerative disease took us on a path that was only possible with the support of many. My forever gratitude to the #BDFA and all researchers. lnkd.in/e3UQ_hAC
Portrait of a young woman in a sunny park, wearing a flowery hat and sunglasses
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UK Kidney Association @ukkidney.org · 21/08/2026
⏰Closing Sunday! The University of Bristol is recruiting a Clinical Research Fellow, Health Data Research to join the LifeArc–Kidney Research UK Centre for Rare Kidney Disease. Work with RaDaR & UKRR data while completing a funded MD or PhD. 📝https://ow.ly/TMaF50ZBnRR #KidneyResearch #Nephrology
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Harmit Singh Malik @harmitmalik.bsky.social · 06/08/2026
Meet the inaugural winners of the Ctrl Z Award www.science.org/content/arti...
science.org
ScienceAdviser Exclusive: Meet the inaugural winners of the Ctrl Z Award
Today in Science and science: Ice age hunters’ penchant for female mammoths, a detailed vagal map, and more
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Rob Patro @robp.bsky.social · 05/08/2026
There has been some debate around this topic. However, I think that AI coding can still be very useful for things apart from rewrites (where there is a guide STAR — pun intended). However, it scales with prior expertise. You must know what you want, how you want to get there, and how to measure it!
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James Ferguson @psy-fer.bsky.social · 29/07/2026
I was recently invited to provide a case study along with other researchers for this blog post+pre-print. My main points are: AI agents are useful, but steering through expertise, verification, responsibility, and support are more important than ever openai.com/index/scient...
openai.com
Scientific computing in the age of agentic AI
A new field report shows how scientists use AI coding agents to modernize scientific computing, accelerating software development and discovery in genomics and beyond.
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Émeline Favreau @emelinefavreau.bsky.social · 20/07/2026
Interesting preprint finding novel nodes and edges in rare disease knowledge graph, by updating data resources and increasing input. Focus on 4 rare diseases including #Batten disease. Read: doi.org/10.64898/202... Code: github.com/DSDD-UCPH/Pr...
doi.org
PrimeKG-Plus: a literature-derived expansion of a multimodal precision medicine knowledge graph
Biomedical knowledge evolves rapidly, yet most disease-centered knowledge graphs remain unchanged after publication. We present PrimeKG-Plus, an extension of PrimeKG that updates all 20 original data ...
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Phil Ewels @ewels.bsky.social · 17/07/2026
Only ONE WEEK left to submit your talk abstract for the online #NextflowSummit in October! 📅🔥 Get those abstracts in quick! 😅
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Émeline Favreau @emelinefavreau.bsky.social · 14/07/2026
The last few months have proven quite exciting with lots of preprints showing great explainable AI models for biomedical hypotheses... based on very cleaned datasets and public repos. Also the last few months: lots of job ads for Data Curators tidying the data ready for AI pipelines. 👀
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ATS Blue Journal @atsblueeditor.bsky.social · 18/02/2026
The Blue Journal thanks Eckart De Bie, MD, MPhil, for his contribution to the January issue Inflammation and Obesity Correlate in Pulmonary Hypertension but Associate with Diverging Outcomes @mark-toshner.bsky.social academic.oup.com/ajrccm/artic...
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Stefan Marciniak @profmarciniak.bsky.social · 28/01/2026
Has the MRC research funding ‘pause’ been covered by any major news network? It feels like it should be a major news story
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Stephen Turner @stephenturner.us · 09/09/2025
Genomic heterogeneity inflates the performance of variant pathogenicity predictions www.biorxiv.org/content/10.1... 🧬🖥️🧪 "we identify the best-performing models for each variant type and establish a benchmark to guide future progress"
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Nextflow @nextflow.io · 04/09/2025
If you're in Cambridge next week, join us for a day of Nextflow training and featured talks, including from @genomicsengland.bsky.social. Plus, networking with the @seqera.io team, including @evanfloden.bsky.social, co-creator of Nextflow! 👩‍💻 We hope to see you there! hubs.la/Q03GRlRB0
hubs.la
Seqera Sessions, Cambridge, UK
Join us in Cambridge for a day of hands-on training and expert talks at the intersection of bioinformatics, research, and innovation. Whether you’re new to Nextflow or looking to deepen your expertise...
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Émeline Favreau @emelinefavreau.bsky.social · 21/08/2025
Expressions of Interest OPEN for #BattenDisease Grant Round. The top priority research lines are so inspiring: best gene-targeted #therapy? which valid, reliable #biomarkers? Can disease progression be halted or reversed? Apply here: bdsrafoundation.org/wp-content/u...
bdsrafoundation.org
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Philip Palermo @palermo.bsky.social · 15/08/2025
Some kids are apparently too expensive to treat. The UK’s National Institute for Health and Care Excellence (NICE) decided it will stop recommending the ONLY approved treatment for CLN2 Batten Disease. They cite a lack of proof of long-term effectiveness and, surprise, cost. Obscenely cruel.
bdfa-uk.org.uk
BDFA Response to NICE Final Draft Guidance not Recommending Cerliponase Alfa for Treating Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) | Batten Disease Family Association (BDFA)
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Eileen Furlong @eileen-furlong.bsky.social · 30/07/2025
To all post-docs: The Genome Biology dept ‪@embl.org has an Independent faculty position. Fantastic place to set up your lab –great package: core funding, fantastic Ph.D. students, cutting edge core facilities & great colleagues. Closing date Sept 19th embl.wd103.myworkdayjobs.com/en-US/EMBL/j...
embl.wd103.myworkdayjobs.com
Group Leader - Genome Biology Unit
Are you ready to lead groundbreaking research in Genome Biology? Join us at EMBL! We are seeking a motivated scientist to lead an independent research group addressing exciting and original biological...
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Dr Sian Gramates @drglam.bsky.social · 11/08/2025
I just got the notice that all the FlyBase people at Harvard, including me, will be laid off on October 12. I'm devastated.
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Annika Inampudi @annikainampudi.bsky.social · 04/08/2025
Last month, 140,000 Danes found out that their genetic data was being used in a massive research project-- without their consent. I unpacked how this happened, and why it matters for @science.org www.science.org/content/arti...
science.org
Blood taken from Danish babies ended up in huge genetic study—without consent
The iPsych project, which investigates the genetics of psychiatric disorders, has sent 140,000 opt-out notices amid backlash
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Chris Wallace @chr1sw.bsky.social · 31/07/2025
What do people use for references in Google docs/word? Coming from latex where referencing was solid, have been stung a couple of times by Google docs/zotero losing or messing up which paper each reference number points to. This is too painful to go through again. What are the alternatives?
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Yuichi Shiraishi @friend1ws.bsky.social · 30/07/2025
🚨New preprint out! 🧬Short reads can now decode centromeres. 🌍We reveal population-scale centromere haplogroups and their links to disease. biorxiv.org/content/10.1... (1/n)
biorxiv.org
Rare k-mers reveal centromere haplogroups underlying human diversity and cancer translocations
Centromeres are among the most diverse and dynamically evolving regions of the human genome and are commonly affected in various human cancers. However, organized into highly repetitive α-satellite hi...
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Yun S. Song @yun-s-song.bsky.social · 06/06/2025
The 2026 Probabilistic Modeling in Genomics (ProbGen) meeting will be held at UC Berkeley, March 25-28, 2026. We have an amazing list of keynote speakers and session chairs: probgen2026.github.io Please help spread the news.
probgen2026.github.io
Home - ProbGen 2026
Your Site Description
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Émeline Favreau @emelinefavreau.bsky.social · 21/07/2025
Five days without access to the HPC. What does one do? Wrong answers only pls #bioinformatics #hpc
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Émeline Favreau @emelinefavreau.bsky.social · 11/06/2025
I really like following how to build your own workflow, and then integrate to an existing workflow by adding neat features in #nextflow pipeline youtu.be/w3bOiBUdR_g
youtu.be
Adriana Messyasz: Analyzing Long-Read 16S Sequences from Oxford Nanopore Sequencing
YouTube video by Nextflow
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Émeline Favreau @emelinefavreau.bsky.social · 28/05/2025
Really neat initiative: Assessing Needs and Expectations for Inclusive Development in Rare Disease Research. #RareDisease #PatientGroups can share their views on this form for the next 6 weeks: erdera.org/news/erdera-...
erdera.org
ERDERA launches survey to put rare-disease patients at the heart of research - ERDERA
ERDERA’s patient-engagement working group has opened an online survey to gauge how rare-disease patient organisations experience their role in publicly funded research, including projects financed und...
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