Émeline Favreau @emelinefavreau.bsky.social · 28/08/2026I’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 000
Reposted by Émeline FavreauUK 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 021
Reposted by Émeline FavreauHarmit Singh Malik @harmitmalik.bsky.social · 06/08/2026Meet the inaugural winners of the Ctrl Z Award www.science.org/content/arti...science.orgScienceAdviser Exclusive: Meet the inaugural winners of the Ctrl Z AwardToday in Science and science: Ice age hunters’ penchant for female mammoths, a detailed vagal map, and more 12611
Reposted by Émeline FavreauRob Patro @robp.bsky.social · 05/08/2026There 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! 121
Reposted by Émeline FavreauJames Ferguson @psy-fer.bsky.social · 29/07/2026I 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.comScientific computing in the age of agentic AIA new field report shows how scientists use AI coding agents to modernize scientific computing, accelerating software development and discovery in genomics and beyond. 162
Émeline Favreau @emelinefavreau.bsky.social · 20/07/2026Interesting 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.orgPrimeKG-Plus: a literature-derived expansion of a multimodal precision medicine knowledge graphBiomedical 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 ... 022
Reposted by Émeline FavreauPhil Ewels @ewels.bsky.social · 17/07/2026Only ONE WEEK left to submit your talk abstract for the online #NextflowSummit in October! 📅🔥 Get those abstracts in quick! 😅 012
Émeline Favreau @emelinefavreau.bsky.social · 14/07/2026The 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. 👀 021
Reposted by Émeline FavreauATS Blue Journal @atsblueeditor.bsky.social · 18/02/2026The 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... 073
Reposted by Émeline FavreauStefan Marciniak @profmarciniak.bsky.social · 28/01/2026Has the MRC research funding ‘pause’ been covered by any major news network? It feels like it should be a major news story 82710
Reposted by Émeline FavreauStephen Turner @stephenturner.us · 09/09/2025Genomic 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" 022
Reposted by Émeline FavreauNextflow @nextflow.io · 04/09/2025If 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/Q03GRlRB0hubs.laSeqera Sessions, Cambridge, UKJoin 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... 034
Émeline Favreau @emelinefavreau.bsky.social · 21/08/2025Expressions 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 011
Reposted by Émeline FavreauPhilip Palermo @palermo.bsky.social · 15/08/2025Some 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.ukBDFA Response to NICE Final Draft Guidance not Recommending Cerliponase Alfa for Treating Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) | Batten Disease Family Association (BDFA) 002
Reposted by Émeline FavreauEileen Furlong @eileen-furlong.bsky.social · 30/07/2025To 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.comGroup Leader - Genome Biology UnitAre 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... 0193225
Reposted by Émeline FavreauDr Sian Gramates @drglam.bsky.social · 11/08/2025I just got the notice that all the FlyBase people at Harvard, including me, will be laid off on October 12. I'm devastated. 63376223
Reposted by Émeline FavreauAnnika Inampudi @annikainampudi.bsky.social · 04/08/2025Last 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.orgBlood taken from Danish babies ended up in huge genetic study—without consentThe iPsych project, which investigates the genetics of psychiatric disorders, has sent 140,000 opt-out notices amid backlash 28035
Reposted by Émeline FavreauChris Wallace @chr1sw.bsky.social · 31/07/2025What 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? 422
Reposted by Émeline FavreauYuichi 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.orgRare k-mers reveal centromere haplogroups underlying human diversity and cancer translocationsCentromeres 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... 156
Reposted by Émeline FavreauYun S. Song @yun-s-song.bsky.social · 06/06/2025The 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.ioHome - ProbGen 2026Your Site Description 27036
Émeline Favreau @emelinefavreau.bsky.social · 21/07/2025Five days without access to the HPC. What does one do? Wrong answers only pls #bioinformatics #hpc 210
Émeline Favreau @emelinefavreau.bsky.social · 11/06/2025I 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_gyoutu.beAdriana Messyasz: Analyzing Long-Read 16S Sequences from Oxford Nanopore SequencingYouTube video by Nextflow 010
Émeline Favreau @emelinefavreau.bsky.social · 28/05/2025Really 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.orgERDERA launches survey to put rare-disease patients at the heart of research - ERDERAERDERA’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... 000