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cgatist.bsky.social
Disease genomics & molecular mechanisms; ME/cfs: http://decodeme.org.uk, SequenceME @ Edinburgh University. Views - my own. He/him.
34 posts 3,150 followers 256 following
Prolific Poster

Two Weeks In The Death Spiral Of Cardiff University, by an anonymous academic. This is truly shocking read. The Cardiff executive board should hang their heads in shame. voice.cymru/two-weeks-in...

This week was the 1st publication using our immune cell sequencing to accurately make medical diagnoses. It has enormous implications, as I've reviewed here erictopol.substack.com/p/the-first-... @scottboydlab.bsky.social @science.org @anshulkundaje.bsky.social @maximzaslavsky.bsky.social

"Teaching of genetics tends to begin with Mendelian traits, presumably because they are deemed easier to understand. This introduces misperceptions about genetic determinism, encouraging linear perspectives on genotype-phenotype relations." A call to embrace complexity by @philipcball.bsky.social.🧪

Want to work in a more interdisciplinary way but little/no institutional support, guidance or resource? Our Insight Series webinars are free, open to all, only one hour long, informal, & offer researchers an opportunity to hear from (& ask questions of) established interdisciplinarians Join us 👇

"Genes are... the easy part" @philipcball.bsky.social argues biologists need to embrace complexity from the start, rather than beginning with oversimplified "one gene, one trait" models +1 www.cell.com/cell-systems...

#Immunology out now @science.org Machine learning, using the sequences of an individual's B and T cell receptors, has the potential to diagnose immune-related diseases. https://buff.ly/3QvxSVf By Maxim Zaslavsky, Erin Craig, @anshulkundaje.bsky.social , @scottboydlab.bsky.social et al.

🚨 In the U.S.: “Within 14 days of the date of this order… the Secretary of Health and Human Services shall terminate the Secretary’s Advisory Committee on Long COVID” #LongCovid #CovidIsNotOver Link ⬇️ www.whitehouse.gov/presidential...

Yung-Heng Chang & @joshdubnau.bsky.social explore a @plosbiology.org study revealing that the #retrotransposon gag protein of Copia forms virus-like capsids that transfer its own RNA across the fly neuromuscular junction to regulate #synapse formation 🧪 Paper: plos.io/3X71IDa Primer: plos.io/4i6rzmC

New Full Article in the Times. Lib Dem MP Helen Morgan calls on the government to prioritise the long-delayed delivery plan for #MECFS, ensuring proper funding, research, and care for 1.3M patients. She calls for action to end years of neglect. archive.ph/2025.02.18-2...

We need to limit expectations on what the FDP will deliver without additional funding 😔 I see this as important work and a START to what is actually needed, which includes; National research effort Training of experts Clinical treatment guidelines Fit-for-purpose services, inc for the v severe.

Pleased to share this research from my PhD in @graemecowan.bsky.social's lab! We replicated existing evidence of moderately increased IGHV3-30 usage in B cells of patients with mild/moderate, but not severe ME. www.frontiersin.org/journals/imm...

What these nihilistic vandals are doing to dismantle science & medicine—generations of expertise & public service & life improving benefits—is cultural revolution level national self harm. No foreign foe could inflict such brutal damage & senseless suffering on US so fast & effectively & unresisted.

"Dear President Smith, I write to express my dismay at the continued silence and apparent inaction from the Royal Society over the Fellowship awarded in 2018 to Elon Musk." Sign here: occamstypewriter.org/scurry/2025/...

🧬 Join our lab in Toronto, Canada 🇨🇦! Exciting postdoc opening joint with @durocher1.bsky.social at the intersection of machine learning and cancer genomics-develop next-gen models to predict genetic interactions with in-the-loop validation. Apply ➡️ apply.interfolio.com/162929 or DM with questions!

If you are a NIH funded researcher and your state is not on this list, you need to be calling your AG office

Do you want to increase capacity for interdisciplinary research at your institution? Do you want to create a research culture that encourages collaboration and connection across disciplinary boundaries? Find out how we can help in our brochure 👇 leeds365-my.sharepoint.com/:b:/g/person...

Hello, Bluesky! ☀️ We fund frontier research in Europe—bold ideas, unexpected discoveries and science that shapes the future. So it’s only fitting we’ve landed here. Sorry for being late. Follow us for updates on ERC funding, research policy, and our grantees' discoveries.

Significant replication of combinatorial genetic signatures for Long Covid risk www.medrxiv.org/content/10.1...

Rubio claims that @USAID lifesaving assistance for health and humanitarian needs will continue. But his team just communicated that the entire agency will be imminently reduced from 14,000 to 294 people. Just 12 in Africa.

This is not my normal field but it was written by my husband- he is meant to be promoting it but doesn't do social media so you have to make do with me instead 😄 Cohesin as an essential disruptor of chromosome organization: Molecular Cell www.cell.com/molecular-ce...

Ideology will shape the questions scientists ask. It's counterproductive to think otherwise. But the minute it's allowed to shape the answers, we are not doing science anymore.

BREAKING NEWS: CDC orders mass retraction and revision of submitted research across all science and medicine journals. Banned terms must be scrubbed. Goes beyond MMWR +other CDC pubs. Applies to research already submitted to top medical journals. Take a look. open.substack.com/pub/insideme...

Some musing this grey Saturday morning on one of my evergreen topics - the progress in rare disease diagnosis and treatments. TL;DR the world keeps making steady progress in diagnosing and then improving - sometimes to the point of a cure - rare disease. The rate of both will only increase.

The website for the NIH Office of Research on Women's Health has nearly been dismantled between yesterday morning and today. Piece by piece throughout the day. What, the new administration will no longer support or tolerate discussion of research affecting the health of >50% of humans? Seriously?!?

We're delighted to share our work on scrambling the human genome using prime editing, repetitive elements, and recombinases in @science.org , led by @jonaskoeppel.bsky.social , @f-raphael.bsky.social , with @proftomellis.bsky.social and George Church. www.science.org/doi/10.1126/...

Modern GWAS can identify 1000s of significant hits but it can be hard to turn this into biological insight. What key cellular functions link genetic variation to disease? I'm very excited to present our new work combining associations and Perturb-seq to build interpretable causal graphs! A 🧵

Very excited about this new work from our lab! Explainer thread coming soon @minetoota.bsky.social

I never thought a day would come when I would write a post this critical about the Cochrane Collaboration. But today was that day: absolutelymaybe.plos.org/2025/01/24/w... #mecfs

Devastating for scientists and their research, and everyone who benefits from that research. I’m not sure if everyone outside academia is aware that a delay or “pause” in grant funding often means the researchers themselves are lost from the field, along with their expertise.

What DNA variants alter transcription factor (TF) binding affinity? Here, we describe a new workflow baal-nf. We used it to trawl through 6017 ChIP-Seq data sets for 558 TFs and 46 genotyped cell lines, finding 298,783 allele-specific binding sites (ASBs). www.biorxiv.org/content/10.1... 1/2

From @meresearchuk.bsky.social A recent study, found that there were two subgroups of individuals with ME/CFS and co-occurring PoTS. This finding opens up the possibility of tailoring treatments according to subgroup. Read more - bit.ly/428yDKR #POTS #MECFS #myalgicencephalomyelitis

🌟NEW PREPRINT ALERT!🌟 We are very pleased to introduce #StrainDifferences: “Genetic background sets the trajectory of cancer evolution” www.biorxiv.org/content/10.1... 🧵[1/12]

One month to go until the CSHL Biology of Genomes abstract deadline! My all-time fav meeting, and one of the few covering genomics broadly. We have a ✨🤩 lineup of speakers, but it's the abstract talks & posters that really make the meeting - send us your best work! meetings.cshl.edu/meetings.asp...

A mechanism for the salutary effects of exercise on reducing body-wide inflammation: immune cell specific reduced cf-DNA release www.pnas.org/doi/abs/10.1... "having significance for inflammation in diverse contexts such as aging, cancer, autoimmunity, and vaccination." @pnas.org

Working with a great team to organize @keystonesymposia.bsky.social on "#LongCOVID and Other Post-Acute Infection Syndromes #PAIS" #KSLongCOVID26 @patientled.bsky.social @daltmann.bsky.social August 10-13, 2025 | Santa Fe Hope to see you there! keysym.us/KSLongCOVID26

The outer ear is a mammalian innovation but where did it come from? In our study in Nature, Mathi Thiruppathy and colleagues find that the outer ear arose from modification of an ancestral gill program first originating in marine invertebrates. www.nature.com/articles/s41... 1/n

I'm delighted to announce that the Pharma Proteomics Project will commence full-scale proteomic profiling of the UK Biobank in 2025. We have selected the Olink Proteomics Explore HT platform and Ultima Genomics UG 100 sequencers for this unprecedented study. www.ukbiobank.ac.uk/learn-more-a...

We are hiring a new postdoctoral bioinformatician! Come and work with us on multidisciplinary cancer genomics projects at the Institute of Genetics and Cancer in Edinburgh: elxw.fa.em3.oraclecloud.com/hcmUI/Candid... institute-genetics-cancer.ed.ac.uk semplelab.com

www.nature.com/articles/s41...

Blood DNA virome associates with autoimmune diseases and COVID-19 www.nature.com/articles/s41...

#MECFS betrifft weltweit 30 Mio Menschen. Trotzdem wird die Krankheit seit Jahrzehnten ignoriert, Betroffene werden psychologisiert, stigmatisiert und falsch behandelt. Wird sich das mit #LongCovid jetzt endlich ändern? Mein Artikel heute in Republik www.republik.ch/2025/01/08/l...

@cgatist.bsky.social @avakhamseh.bsky.social labs introduce Stator for improved cell type and subtype identification by multiply labeling individual cells with additional state information ➡️ www.embopress.org/doi/full/10....

Well isn't this cool??? www.medrxiv.org/content/10.1... Variants in RNU4-2 and RNU6 paralogues could account for up to 1.2% of undiagnosed retinitis pigmentosa cases! Really neat example of pleiotropy: different RNU4-2 variants underlie neurodevelopmental disorder (ReNU syndrome) and RP. 🤓🧬🖥️🩺❤️

Very excited that this is now published: Stator is a new method to infer higher-order interactions in gene expression data, which reveals cell states and types without clustering! It's an "intersectional" approach to cellular identity: cells can have multiple identities--states are not disjoint!