Our March issue is online!
Revisit #ASHG25 with the Presidential and awards addresses & then catch up with the latest human genetics & genomics research!
www.cell.com/ajhg/current

ASHG 2025 PRIMED Abstracts

At #ASHG25, a range of PRIMED work was presented in talks and posters
docs.google.com/spreadsheets... 6/

Still haven’t unlocked the session recordings package from #ASHG25? Thousands joined live—now access these standout sessions before the year ends.
🎥AI-Powered Genomics
🎥AI & Machine Learning Tools
Click here to claim access: https://learning.ashg.org/am-2025-session-recordings #ASHG #HumanGenetics

We asked researchers at #ASHG25: Short reads or long reads?

The debate lives on, but HiFi sequencing keeps it exciting.

When sequencing sparks debate, #TheresHiFiForThat

Learn more with our Seq101 guide: bit.ly/4gGkp9t

#PacBio

As did #ASHG25! They filled the space with a big lounge area. Still 💔

Brilliant or Bumbling? AI Tools Aren’t Quite Ready for Genetic Diagnosis Large language models show promise as an assistant to clinical experts, but they’re not ready for prime time

At #ASHG25 there were some great talks about assessments of the potential for using AI tools in clinical genetics diagnosis. The results were a mixed bag, which I wrote about here: salisburys-take.beehiiv.com/p/brilliant-...

GAW (Genetic Analysis Workshop) Revival Interest Form If you are interested in helping to renew the Genetic Analysis Workshops, please provide your contact information below. We will follow up with more information soon.

It was great seeing many of you at #ASHG25! Based on the discussions at our IGES meetup, we are considering reviving the Genetic Analysis Workshop (GAW) series.

If you are possibly interested in helping out, fill out this form and we will get in touch: docs.google.com/forms/d/e/1F...

On-demand #ASHG25 content is now available for purchase! Perfect for attendees AND those who couldn’t join us in person—watch select sessions anytime, anywhere.

Get discounted access by joining/renewing your membership. Secure your package now: https://bit.ly/4nXHNlv #ASHG

Building on the momentum from #ASHG25, #PacBio was named one of the 2025 Top Innovations contest winners. The #Vega benchtop system was recognized for enabling highly accurate long-read sequencing in a scalable, cost-effective way.

Read more here: bit.ly/3KXnmGV

This year is my first time attending #ASHG25 and I gave my first oral presentation ever, about: the association of GLP1R and GIPR with metabolic and mental health - implications for drug response in investing receptor agonist treatment. Unforgettable experience and hope to come back again next year

I hope fellow #ashg25 attendees respond to the survey, and provide unvarnished feedback on this year’s app. 🤨

Weren't able to attend ASHG25? Don't worry, you can still check out the poster our Research Scientist, Sarah Traynor, presented on TIP-ChIP: Tagmented, Indexed, and Pooled ChIP-Seq.

📄 Download the poster here: bit.ly/4nZpIU3

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#ASHG25 #Epigenetics #TIPChIP #ChIPSeq #ActiveMotif #NIH

The #ASHG25 feedback survey was just emailed out

For question #6, please request more sessions around equity, advocacy, policy, and ethics

Specifically mention combating modern eugenics movements targeting transgender, intersex, and disabled people

Thank you for your allyship 🙏🏳️‍⚧️

Thank you for stopping by our booth or attending a talk at #ASHG25! We’re excited to see how you use new #singlecell scaling innovations and deeper #multiomic insights to power future research breakthroughs.

My science 💜 is full as I reflect on a great week at #ASHG25! 5 posters from the lab, symposium on #epilepsy 🧠 #genetics 🧬, catching up with so many friends and colleagues. Already excited for #ASHG26 in Montreal - see you there!

@plasmidsaurus.bsky.social next time in Boston for #ASHG25, consider catering with Bagelsaurus!

My summary of NGSX announcements at #ASHG25 at albertvilella.substack.com for those who TLDR'd the conference. Subscribe!

My summary of NGSX announcements at #ASHG25 at albertvilella.substack.com for those who TLDR'd the conference.

Congratulations to Chenyang Yuan for winning the Trainee Research Excellence Award at #ASHG25. Yuan presented mcDETECT, a machine learning framework for analyzing mRNA localized in neuronal synapses/dendrites/axons 1/2 www.biorxiv.org/content/10.1...

photo of Boston at night from an airplane

photo of the author at a podium giving a talk

Had a nice time at #ASHG25 sharing my science and catching up with friends/colleagues (and applying for faculty positions late into the night 😅)

Yet scientists doing stuff like curing cancer couldn't attend the American Society of Human Genetics conference this week, despite having already paid for flights, hotels, registration... #ASHG25

Feeling exhausted after a fantastic but (as always) full-on #ashg25 . Great to catch-up with so many folks!

So long Boston, for a little while at least...

#ASHG25 may be over, but the learning continues:

🖥️ On-demand access to recorded sessions is coming soon!

Learn at your pace, anytime, anywhere. Stay tuned for details! #ASHG #HumanGenetics

I should have stayed an extra day after #ASHG25

One of the highlights of #ASHG25 was reading the "I Advocate for Science Because..." wall

What an incredible week at #ASHG25!
 
We unveiled the next era of SMRT Cells and our new SPRQ-Nx chemistry on Revio, enabling comprehensive genomes for under $300 at scale. Beta access is now open, and spots are limited. Learn more and sign up at pacb.com/techroadmap.
 
#PacBio #SPRQNx #ASHG

#ASHG25 was great! Looking forward already to #ASHG26 in Montreal! And looking forward to a future where we can see all the awesomeness of genetics and genomics reach all people, countries & communities every day from timely diagnoses to precision health @geneticssociety.bsky.social ♥️🧬

- The technology gap is worringly widening more & faster, from access to genomic sequencing, other omics technologies, and AI/digital tech. While we're seeing huge advances & benefits from genomics in wealthy countries, these are not benefitting patients & people equally. #ASHG25

- Great progress in understanding disease and disease mechanisms. Glad to see more balance in the program between rare diseases, mechanisms, complex diseases, and biobank/large-scale projects and disease prediction. Not inundated with GWAS and PRS talks this year! #ASHG25 🧵

And it's a wrap for #ASHG25!!! 🤩
Great talks, discussion, and insights!
My personal takeaways and thoughts:
- Everyone is VERY interested but still unclear on how AI can help us do better science from research, finding new genes, drug targets, predict outcomes, and publishing 🧵