🎉Spotlight on this year's Outstanding Trainee Publication Award winner Maria Palafox
👉Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids
📄 tinyurl.com/yndpnk2w
📹 tinyurl.com/2b3enw28
🎉Spotlight on this year's Outstanding Trainee Publication Award winner Yu Fu
👉Role of X chromosome and dosage-compensation mechanisms in complex trait genetics
📄 tinyurl.com/53v4ucpa
📹 tinyurl.com/57ddavd9
What we discovered during the #ASHG25 Featured Plenary Abstract Session III—the complexity of the human genome can be studied through many innovative approaches/tools, and there’s a need for more globally representative genomes and cohorts. #ASHG
Today's the final chance to meet the editors of our journals— @ajhgnews.bsky.social & @hggadvances.bsky.social!
🗣️Ask questions, get insights, and build connections that could shape your next publication.
Don’t miss this opportunity before the conference wraps: bit.ly/4nniQQ6 #ASHG25 #ASHG
Now: Julian Lucas: Accurate representation of globally diverse human haplotypes in the second release of the human pangenome reference #ASHG25 🧪🧬🖥️
Day three of #ASHG25 is complete! ✔️
For today’s highlights we:
💡Soaked up insights from today’s scientific sessions
🏅Celebrated the excellence of our outstanding awardees
🔗Connected & collaborated with fellow attendees
See you tomorrow for day four!
To learn more about the science behind this topic, check out these articles from @ajhgnews.bsky.social:
📄 bit.ly/4pXXRVV
📄 bit.ly/4n47Whr
#ASHG
💥#ASHG25 Featured Symposia are here—and they're ending on a high! "Genomes from the Global South" is exploring how ancient and isolated populations with rich histories and cultures are unlocking new genomic discoveries: https://t.co/MaF5CPUtAo #ASHG https://t.co/Jse5NAWelv
You’ve seen the stories. You’ve felt the FOMO. But there’s still time to see #ASHG25 LIVE!
With GenomeCast, you can stream select sessions & join Q&As — all from wherever you are.
🎟️Register now before it’s all over: https://meetings.ashg.org/event/ASHG25/attend/ASHG-2025-GenomeCast
Now: Carlos Fernado Buen Abad Najar: Identification of unannotated mRNA isoforms driving gene regulation and disease from large-scale RNA-seq data #ASHG25 🧪🧬🖥️
Now: Erica Vaccari: Reimbursement of germline genetic testing for cancer is impacted by socioeconomic characteristics and insurer type #ASHG25 🧪🧬🖥️
Now: Fan Zhang: Pervasive interaction between HLA, KIR, and TCR for autoimmune diseases in >1 million individuals across diverse populations #ASHG25 🧪🧬🖥️
Antonio Adamo, PhD, discusses how supernumerary X chromosomes shape brain organoid architecture and function in a dose-dependent fashion during the #ASHG25 Featured Plenary Abstract Session II
Now: Janet Song: Human-specific tandem repeat in CACNA1C modulates responses to neuronal stimulation #ASHG25 🧪🧬🖥️
Meet the assistant editors behind @ajhgnews.bsky.social; @pwhook.bsky.social & @alysonbbarnes.bsky.social!
Find them at booth #854 & get real advice from the people who work behind the scenes to spotlight groundbreaking science. No appointment needed—just bring your questions and curiosity! #ASHG25
We're starting day three of #ASHG25 strong w/ the morning block of platform sessions! Not sure what to see? Check out this session, 'Human Diversity and Evolution,' highlighting recent progress in the study of ancient DNA and varied human populations: https://t.co/2JPtSIcbcZ https://t.co/RS2i8xLXHl
🎖️Congratulations to the ASHG 2025 Lifetime Achievement Awardee Harry (Hal) Dietz, MD, and Mentorship Awardee Carole Ober, PhD! Learn more about the award and their work here: www.ashg.org/membership/a... #ASHG25
Interested in using finemapping software that can handle the admixed populations Loic Yengo is emphasizing in his Presidential Symposium talk? Check out CARMA-X in @ajhgnews.bsky.social: doi.org/10.1016/j.ajhg… #ASHG25
Day One of #ASHG25 is complete! ✔️
🎙️ASHG President
@sarahtishkoff.bsky.social, kicked off the meeting with a powerful Presidential Address
🌟Connections formed in our networking & pre-meeting events
💡The first plenary abstract session delivered big insights
See you tomorrow for day 2!
“We must keep going with this ability to sample genomes, not just in the convenient places we started out with.” - former Director of the National Institutes of Health, Francis Collins, MD, PhD, during his recognition speech at #ASHG25
Now: Srikar Gopinath: Measuring the functional impact of 5'UTR variants in human disease #ASHG25 🧪🧬🖥️
After a few delays, I made it to #ASHG25! Excited to see some great science over the next few days!
@ajhgnews.bsky.social latest study uncovers regulatory splicing elements & implicates RNA-binding proteins hnRNPF & hnRNPAB in VHL exon 2 regulation. The authors highlight limitations of current prediction tools & provide insights into VHL-related molecular pathogenesis: www.cell.com/ajhg/abstrac...
Our October issue is online! Check out the latest human #genetics & #genomics research!
www.cell.com/ajhg/current