Important read as the NIH moves to invest much more in reproducibility

We are so excited to see our work out in @nature.com! We present a multi-omic single-cell atlas of 12 organs in human fetal development, explore the enhancer landscape, use deep learning to infer rules of transcription factor activity, and interpret non-coding variants in complex traits: #GeneReg 🧬🖥️

Required reading for any student of genetics. A lucid and thoughtful piece on term that is far from unambiguous. I encourage sharing widely.

A promotional banner for the ASHG Annual Meeting in Montreal, October 20-24, 2026. It features the text "Share Your Research" and details about abstract submission, due by May 18. A "Submit Now!" button is included. In the background, several attendees are engaged in discussions near presentation boards.

Your science matters—and it belongs in the global conversation.
Abstract submissions for the ASHG Annual Meeting are now open. Share your discoveries, connect across borders, and help shape the future of human genetics and genomics.
Submit by May 18. https://bit.ly/3PKPMpZ
#ASHG26

The Orange Cat Brain Atlas is here. 🧠🐈

Today, we published the first comprehensive cellular map of the orange cat brain. The new atlas reveals a single, specialized neuron responsible for behaviors like staring at walls, knocking objects off tables, and the 3am "zoomies."

Modulating alternative splicing of MECP2 is a potential therapeutic strategy for Rett syndrome Switching of MECP2-e2 to the more efficiently translated e1 isoform up-regulates MeCP2 protein and rescues deficits in RTT iPSC-derived neurons.

New Zoghbi lab MECP2 paper out 🎉: Modulating alternative splicing of MECP2 is a potential therapeutic strategy for Rett syndrome | Science Translational Medicine www.science.org/doi/10.1126/...

ASHG 2027 Board of Directors nominations are open! 5 roles available: one President and four Director seats—2 dedicated for trainee & early career members. Active members passionate about ASHG, apply or nominate a colleague by March 20: https://bit.ly/4qBJndg #ASHG #HumanGenetics

[looking through a microscope, crying] i am begging you to do something sensible one time

[the infinite variety of forms most beautiful] lol no

Population-scale sequencing resolves determinants of persistent EBV DNA - Nature Population-scale WGS reveals genetic determinants of persistent EBV DNA, linking immune regulation—especially antigen processing and MHC class II variation—to EBV persistence and heterogeneous di...

Today in @nature.com, we describe how discarded reads in biobank-scale WGS can help resolve the genetic predictors and consequences of Epstein-Barr Virus (EBV) infection.

Wonderful working with @ryandhindsa.bsky.social @sherrynyeo.bsky.social @erinmayc.bsky.social

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

Call on your house representatives to support a FY2026 budget bill that would preserve funding for NIH at the Senate Appropriations Committee approved level of $48.7B and adopt Senate language prohibiting a cap on indirect costs and limiting multi-year funded grants to levels consistent with FY2024

Ready for your next step to your future in genomics? Applications for the ASHG-NHGRI Post-Baccalaureate Genomics Analyst Fellowship are OPEN—submissions close Feb 1! Gain in-depth experience, learn from field leaders, and influence progress in #humangenetics research. Apply now: bit.ly/44WDkbq #ASHG

An expanded registry of candidate cis-regulatory elements - Nature The existing ENCODE registry of candidate human and mouse cis-regulatory elements is expanded with the addition of new ENCODE data, integrating new functional data as well as new cell and tissue types...

Our paper on the newest version of the Registry of candidate cis-Regulatory Elements (cCREs) is out 🧬

Huge thanks to the many collaborators, experimentalists, analysts and software developers who made this work possible — truly a team effort!

A "meme-torial" of the science is coming soon 👀

On the last day of #ASHG25, attending a telomere session entitled "end results" seems fitting. It's been a great meeting talking with vibrant young geneticists, and on this note, I'm hiring a postdoc! thejacksonlaboratory.wd503.myworkdayjobs.com/External_JAX...

This is so good to see - a young baby has had a life changing treatable disease diagnosed early due to broad based (healthy baby) genome sequencing. He has a rare eye cancer gene, and has immediately been put into the effective treatment pathway.

Welcome to #ASHG25! As our President Sarah Tishkoff just noted, next year for the first time the ASHG exec cmte will be all women. Glad to have anyone and everyone participating in this society now and in the future.

Excited to kick off #ASHG25 today! Stick around for my Saturday morning platform talk, "Dissecting MECP2 cis-regulatory architecture with massively parallel reporter assays to assess its contribution to male-biased autism"

The Department of Human Genetics at the University of Michigan is looking for a new faculty colleague at the rank of Assistant Professor. Please share!

careers.umich.edu/job_detail/2...

📣New from @sequenceman.bsky.social & co
📄Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties
👉https://tinyurl.com/mwc5vfb4

We are excited to announce the release of the MaveDB Experiment Heatmaps and Alignment track for hg38. Each heatmap shows the results of many small substitutions that were tested within a gene to examine their functional consequences.

Learn more at:
http://bit.ly/4lCIlLq

Notes from Beethoven’s genome Wesseldijk et al. compare the genomic information collected from Ludwig van Beethoven with population-based datasets used to quantify musical achievement.

If someone you know buys into claims about "genetic optimization" of embryos using polygenic scores of cognition, just send them our 2024 paper on Beethoven & musicality. We wrote it to help communicate limits of individual-level genetic predictions & complexity of links between DNA & behaviour. 🧪👇

Leveraging deep mutational scanning and a DNA repair reporter assay, @ajhgnews.bsky.social latest article from @jacobkitzman.bsky.social & co provides a resource to resolve MUTYH VUSs: www.cell.com/ajhg/abstrac... #ASHG #HumanGenetics

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...

In another milestone for human genetics, the world's largest set of whole-genome DNA sequences now encompasses data from nearly half a million people, described in this new @nature.com paper from @ukbiobank.bsky.social: 🧪👇

Check out our latest work co-led by @dcsoto.bsky.social and @jmuribescr.bsky.social identifying hundreds of human duplicated gene families using the new T2T-CHM13 assembly, with a focus on those potentially contributing to brain evolution 🧪: authors.elsevier.com/a/1lTQtL7PXu...

I’ve really enjoyed the mentorship and community provided by this program! Feel free to contact me if you have any questions 🧬🧪

Exclusive: NIH to dismiss dozens of grant reviewers to align with Trump priorities The move would undo years of work, leaving advisory councils understaffed, and without the full expertise needed for reviews.

NEW: In an unprecedented move, the NIH will soon disinvite dozens of scientists about to take positions on advisory councils that make final decisions on grant funding.

NIH staff were told to select others aligned with the Trump administration and told to expect placements by political appointees.

In vivo mapping of mutagenesis sensitivity of human enhancers - Nature Human enhancers contain a high density of sequence features that are required for their normal in vivo function.

In vivo mapping of mutagenesis sensitivity of human enhancers

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

If you weren't angry enough already, here are the rates of non-competitive renewals through May.

4008 Non-competitive renewals were due to be funded in May.

The total funded was 99!

Some is due to terminations, but most is due to slow grant making due to DOGE review and other impediments.

1/2

We're spending today polishing #ASHG25 abstracts - are you? Friendly reminder that abstracts are due at 5PM Eastern on MONDAY! 🗓️ ⏰ Showcase your science, network with @geneticssociety.bsky.social 🧬 friends and colleagues 🧬 in Boston this fall. Can't wait to see you there!

The whole point of funding research is that it may benefit everyone and as the population ages, it will likely save someone close to you (ahem Russ Vought!). But you cannot afford to fund the research yourself unless you’re an oligarch. If there is no social compact for this what even is the point?