@emelinefavreau.bsky.social
Reposted
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"
September 9, 2025 at 3:55 PM
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"
Reposted
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
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
September 4, 2025 at 8:52 AM
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
We hope to see you there! hubs.la/Q03GRlRB0
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
August 21, 2025 at 9:11 AM
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...
Reposted
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.
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 Response to NICE Final Draft Guidance not Recommending Cerliponase Alfa for Treating Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) | Batten Disease Family Association (BDFA)
bdfa-uk.org.uk
August 15, 2025 at 4:45 AM
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.
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.
Reposted
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...
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
July 30, 2025 at 1:41 PM
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...
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...
Reposted
I just got the notice that all the FlyBase people at Harvard, including me, will be laid off on October 12. I'm devastated.
August 11, 2025 at 6:12 PM
I just got the notice that all the FlyBase people at Harvard, including me, will be laid off on October 12. I'm devastated.
Reposted
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...
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
www.science.org
August 4, 2025 at 3:57 PM
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...
I unpacked how this happened, and why it matters for @science.org
www.science.org/content/arti...
Reposted
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?
July 31, 2025 at 8:46 AM
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?
Reposted
🚨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)
🧬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
July 30, 2025 at 1:50 PM
🚨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)
🧬Short reads can now decode centromeres.
🌍We reveal population-scale centromere haplogroups and their links to disease.
biorxiv.org/content/10.1... (1/n)
Reposted
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
Please help spread the news.
Home - ProbGen 2026
Your Site Description
probgen2026.github.io
June 6, 2025 at 5:52 PM
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
Please help spread the news.
July 21, 2025 at 8:47 AM
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
June 11, 2025 at 10:34 AM
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
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
May 28, 2025 at 6:38 AM
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-...