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

⏰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

Meet the inaugural winners of the Ctrl Z Award www.science.org/content/arti...

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

science.org

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!

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...

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.

openai.com

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...

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 ...

doi.org

Only ONE WEEK left to submit your talk abstract for the online #NextflowSummit in October! 📅🔥 Get those abstracts in quick! 😅

Nextflow@nextflow.io · 2mo ago

🎤 The #NextflowSummit returns on Oct 13-14, and we're looking for speakers to share their experience using Nextflow for scalable, reproducible analysis.🌎 Submit your talk abstract by July 24 to share your work with global community. 🔗 hubs.la/Q04pMYJ80

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. 👀

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...

Has the MRC research funding ‘pause’ been covered by any major news network? It feels like it should be a major news story

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"

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

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...

hubs.la

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...

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.

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...

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...

embl.wd103.myworkdayjobs.com

I just got the notice that all the FlyBase people at Harvard, including me, will be laid off on October 12. I'm devastated.

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...

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

science.org

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?

🚨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)

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...

biorxiv.org

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.

Five days without access to the HPC. What does one do? Wrong answers only pls #bioinformatics #hpc

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

Adriana Messyasz: Analyzing Long-Read 16S Sequences from Oxford Nanopore Sequencing

YouTube video by Nextflow

youtu.be

Nextflow@nextflow.io · last yr.

Interested in microbial profiling? 🧫Adriana Messyasz from @Rutgers_NJMS just walked us through developing a scalable @nextflow.io o workflow for analyzing long-read 16S sequences from Oxford Nanopore sequencing!

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 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...

erdera.org