Rebecca Meyer-Schuman

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?

Here: Baby KJ at home with his mom Nicole.
This really happened, folks. Hundreds of people from 8 organizations (led by Rebecca Ahrens-nicklas and Kiran Musunuru) came together to make a bespoke gene editor for this kiddo. He was once in the 7th percentile of body weight. Look at him now! ❤️

There's only ~1 week left for abstract submission for #ASHG25! Get your best stories submitted so we have more fun planning the program. Looking forward to seeing a ton of you genetics researchers in Boston this fall.

Cutting the NIH—The $8 Trillion Health Care Catastrophe This JAMA Forum discusses the recent budget cuts to National Institutes of Health (NIH), the effects of these cuts on scientific research and health of individuals in the US, and the prospects for cha...

Two Harvard economists forecast the impact of the administration’s proposed NIH budget cuts- stunning losses in new therapies, life expectancy, and economic output with a “social cost 16 times greater than the savings the administration is attempting to achieve."

jamanetwork.com/journals/jam...

Congratulations @agarginine.bsky.social!!!

The abstract deadline for #ASHG25 is fast approaching! Submit your science by June 9! 🧬

Abstracts Abstract submission for ASHG 2025. We encourage you to submit your latest research on human genetics and genomics for programming at the ASHG 2025 Annual Meeting.

It's time to submit abstracts for ASHG 2025! It's going to be a fantastic meeting in Boston. Hope to see you there!
www.ashg.org/meetings/202...