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jeromeebb.bsky.social
Jerome (he/him) 🧬🏳️‍🌈
@jeromeebb.bsky.social
🧬 Human Genetics scientist | computational biologist | foodie | coffee snob ☕️ |🖖🏽🔬👨🏾‍💻🏳️‍🌈| all opinions here are my own 🐒
Reposted by Jerome (he/him) 🧬🏳️‍🌈
How do GWAS and rare variant burden tests rank gene signals?

In new work @nature.com with @hakha.bsky.social, @jkpritch.bsky.social, and our wonderful coauthors we find that the key factors are what we call Specificity, Length, and Luck!

🧬🧪🧵

www.nature.com/articles/s41...
Specificity, length and luck drive gene rankings in association studies - Nature
Genetic association tests prioritize candidate genes based on different criteria.
www.nature.com
November 7, 2025 at 12:05 AM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
California is devising a plan to create their own National Institutes of Health to counter federal cuts to science research.
California’s $23 Billion Plan to Restore Federal Cuts to Scientific Research
www.nytimes.com
September 13, 2025 at 10:23 PM
🤯 "Nothing in Biology Makes Sense Except in the Light of Evolution"
September 3, 2025 at 8:32 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
I read the headline and was super skeptical…but….

BIOLOGY OF ANTS BE CRAZY
September 3, 2025 at 3:45 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
starting to suspect my neighbor is a large language model
August 15, 2025 at 1:44 AM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
This preprint from Helen Sakharova is one of the coolest things to come out of my lab: “Protein language models reveal evolutionary constraints on synonymous codon choice.” Codon choice is a big puzzle in how information is encoded in genomes, and we have a new angle. www.biorxiv.org/content/10.1...
Protein language models reveal evolutionary constraints on synonymous codon choice
Evolution has shaped the genetic code, with subtle pressures leading to preferences for some synonymous codons over others. Codons are translated at different speeds by the ribosome, imposing constrai...
www.biorxiv.org
August 7, 2025 at 8:29 AM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
Same.
August 7, 2025 at 6:22 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
The new special issue @science.org
features Immunity with 4 outstanding review papers, 5★ science.org/toc/science/...
Our immune system over the lifespan (figure at right on path to inflammaging and immunosenescence), sex differences, influence on physiology, and host antiviral defenses
August 7, 2025 at 7:24 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
🚨 Join us at #ASHG25!🚨
We’re unveiling a new standard for Predicted Effector Gene (PEG) data - designed to make gene prioritisation more transparent, reusable, and #FAIR.
#HumanGenetics #GeneticsDiscoveries #EffectorGene #GWAS #FunctionalGenomics #PEGstandard👇
August 7, 2025 at 8:08 AM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
Excited to share our new preprint, led by Kirandeep Deol! 🤩 Genetic screens uncover mechanisms regulating FSP1 abundance in cancer. Vitamin B2 metabolism promotes FSP1 stability via FAD synth / binding, further linking nutrient metabolism to ferroptosis.
www.biorxiv.org/content/10.1...
Vitamin B2 metabolism promotes FSP1 stability to prevent ferroptosis
Ferroptosis, a regulated form of cell death driven by excessive lipid peroxidation, has emerged as a promising therapeutic target in cancer. Ferroptosis suppressor protein 1 (FSP1) is a critical regul...
www.biorxiv.org
August 6, 2025 at 3:21 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
How does Epstein- Barr virus induce multiple sclerosis?
The infection leads to B cells that get into the brain, attracting pro-inflammatory T cells (mouse model)
www.nature.com/articles/s41...
EBV induces CNS homing of B cells attracting inflammatory T cells - Nature
Epstein–Barr virus infection generates a neuroinvasive B cell subset, which recruits activated T cells to the central nervous system, promoting multiple sclerosis.
www.nature.com
August 6, 2025 at 3:24 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
This study with @ukbiobank.bsky.social will deepen our understanding of the human genome, support the development of more effective treatments, and pave the way for precision medicine 🧬

Learn more about our journey with UK Biobank here: sangerinstitute.blog/2022/09/26/o...
August 6, 2025 at 3:49 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
✅ Published in @natureportfolio.nature.com today, the paper describing the initial whole-genome sequencing analysis of 500,000 UK Biobank participants.

Read here: www.nature.com/articles/s41...
Whole-genome sequencing of 490,640 UK Biobank participants - Nature
A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation a...
www.nature.com
August 6, 2025 at 3:17 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
We're committed to finding new ways of getting important, original research into scientists’ hands as quickly as possible.

Take a look at the other formats you can publish in, from Tools and Resources to Research Advances to Short Reports: buff.ly/GXKivkm
August 6, 2025 at 4:20 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
Scaling DNA sequencing is a notable success story.

Scaling protein analysis is harder since the proteome is a much taller mountain: www.nature.com/articles/s41...

@asimovpress.bsky.social writes about @parallelsq.bsky.social's approach to scale up proteomics.
August 5, 2025 at 12:45 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
Thanks to Trump's cuts, seasonal employees at Yosemite worked for as long as six weeks without pay.

The National Park Service is one of our most popular government agencies.

It's being gutted to fund enormously unpopular tax cuts for the super-rich.
Yosemite employees worked for weeks with no pay before the government hired them
Seasonal employees counting on housing at Yosemite were asked to volunteer for the park while the government was unable
www.npr.org
August 4, 2025 at 11:01 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
We’re pleased to offer open access agreements for research institutions in support of a more equitable and sustainable system for scientific publishing, including uncapped and centralised schemes.
buff.ly/wuB4xoO
#OpenScience #AcademicChatter
July 30, 2025 at 3:53 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
3 groups use generative AI to design high-specificity pMHC-binding “artificial TCRs” for more precise targeting of tumor antigen @science.org
www.science.org/doi/10.1126/...
July 24, 2025 at 10:57 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
EMBL researchers and their collaborators have provided exciting new insights into human genetic variation by building upon the 1000 Genomes Project dataset.

The two studies constitute what may be the most complete overview of the human genome to date.

www.embl.org/news/science...
July 23, 2025 at 3:20 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
In the world of sphere packing, there’s been debate about whether order or a dash of chaos will give the best results. A recent proof marks a win for order. www.quantamagazine.org/new-sphere-p...
July 7, 2025 at 2:27 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
This spot is always empty
July 5, 2025 at 6:51 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
STAT story about Eric Green, former director of the National Human Genome Research Institute

www.statnews.com/2025/06/26/n...

1/n
Eric Green was the first institute director forced out of NIH. He still hasn’t been told why
Eric Green said the process leading to his ouster as a NIH institute director by the Trump administration remains "shrouded in mystery"
www.statnews.com
June 26, 2025 at 12:36 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
This a really exciting leap forward for genomic sequence to activity gene regulation models. It is a genuine improvement over pretty much all SOTA models spanning a wide range of regulatory, transcriptional and post-transcriptional processes. 1/
Excited to launch our AlphaGenome API goo.gle/3ZPUeFX along with the preprint goo.gle/45AkUyc describing and evaluating our latest DNA sequence model powering the API. Looking forward to seeing how scientists use it! @googledeepmind
June 25, 2025 at 4:18 PM
Reposted by Jerome (he/him) 🧬🏳️‍🌈
Insanity
today @newyorker.com
June 17, 2025 at 4:26 PM