Sign in

American Society of Human Genetics (ASHG)

@geneticssociety.bsky.social
1.6K followers 170 following 512 posts

🧬Founded in 1948, the American Society of Human Genetics (ASHG) is the primary professional membership organization for #humangenetics specialists worldwide. www.ashg.org

PostsRepliesMedia
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 22h
Our Know Before You Go webinar is TOMORROW. Join us at 12 pm U.S. ET for practical insider tips on how to make the most of your time in Montréal. Plus, bring your questions for a live Q&A. Register now: bit.ly/3VdApJ3 #ASHG26 #ASHG #HumanGenetics
000
Reposted by American Society of Human Genetics (ASHG)
The American Journal of Human Genetics @ajhgnews.bsky.social · 01/10/2026
Our October issue is online--check it out! www.cell.com/ajhg/current
011
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 05/10/2026
@ajhgnews.bsky.social is a home for discoveries, statistical methods, & ideas that move the field forward. Hear from Editorial Board member Loic Yengo, PhD, on why AJHG is a trusted destination for readers & researchers alike. Learn more & submit your work: bit.ly/46Qu4G #ASHG
032
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 01/10/2026
Fuel Future Discoveries, One Step at a Time. Join #ASHG's Fit for the Future of Human Genetics fundraising campaign, turning your everyday movement into meaningful support for trainees & early-career researchers facing financial barriers. Get involved: bit.ly/4dfkNLA #ASHG #HumanGenetics
000
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 01/10/2026
New research in @hggadvances.bsky.social's shows that MED13L variants disrupt mitochondrial function, uncovering an intersection between transcriptional control & mitochondrial homeostasis with implications for future therapeutic development: bit.ly/4hjIchn #ASHG #humangenetics
001
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 01/10/2026
In @ajhgnews.bsky.social's latest article, the authors highlight recent progress integrating genomics into newborn screening programs & discuss persistent challenges in standardization, scale, and equity: bit.ly/3V6KiZn #ASHG #humangenetics #geneticsdiscoveries
002
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 30/09/2026
Getting ready for #ASHG26? Join our Know Before You Go webinar on Oct. 7 at 12 p.m. U.S. ET to learn how to navigate the meeting & maximize your time in Montréal. Bring your questions for a live Q&A! Register now: learning.ashg.org/products/ashg-202… #ASHG
000
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 25/09/2026
#ASHG26 shouldn't be something you hear about later. GenomeCast grants you virtual access to select sessions, including the Presidential Symposium & Distinguished Speakers Symposium. Stay connected to the science shaping the future of #humangenetics: bit.ly/4ypM860 #ASHG
001
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 24/09/2026
Congratulations to the recipients of the 2026 ASHG Publication Awards! 🎉 Each year, ASHG journal editorial boards honor 4 outstanding articles for exceptional contributions to scientific discovery. Meet the recipients: bit.ly/4yQcQVm @ajhgnews.bsky.social @hggadvances.bsky.social
031
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 23/09/2026
@clare-turnbull.bsky.social & colleagues of @ajhgnews.bsky.social latest article presents CanVar-UK, an international data-sharing and variant interpretation platform for cancer susceptibility genes: www.cell.com/ajhg/abstract/S0002-92… #ASHG #HumanGenetics #GeneticsDiscoveries
cell.com
CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes
CanVar-UK is a data sharing and variant interpretation platform for cancer susceptibility genes (CSGs) housing in silico, functional, case/control frequency, and multifactorial data for over 1.1 milli...
002
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 23/09/2026
Using lentiMPRA, @hggadvances.bsky.social latest article identifies a variant that impacts CCDC88C expression, potentially influencing breast cancer risk & prognosis. This work shows the potential for large-scale assays to assist in prioritizing disease-relevant variants: bit.ly/4hDKsjt
001
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 23/09/2026
🚨Tomorrow at 9:30 am (U.S. ET), we'll be diving into the future of #humangenetics. Join leading experts for two days of #AI & #machinelearning insights & panel discussions shaping genomics and #precisionmedicine. Don't miss this ➡️ Register now: bit.ly/4pLrGt7 #ASHG
010
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 22/09/2026
Want to make meaningful connections at #ASHG26? Register for the Know Before You Go webinar (Oct. 7, 12 pm U.S. ET) to learn where networking opportunities happen & how to make the most of them. Bring your questions for a live Q&A. Secure your spot: bit.ly/3VdApJ3 #ASHG
000
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 21/09/2026
THIS WEEK: the virtual symposium on #AI in #humangenetics begins. Register now to gain practical insights, hear expert perspectives, & explore emerging applications while earning up to 6 CE: bit.ly/4pLrGt7 #ASHG
000
Reposted by American Society of Human Genetics (ASHG)
European Society of Human Genetics @eshg.bsky.social · 16/09/2026
📢 ASHG–ESHG Joint Webinar: Careers in the Public Sector 📅 Sept 30, 2026 | 🕓 16:00 CEST | 💻 Zoom | FREE Join Amna Khamis, Ayse Demirkan & Michael Talkowski for an interactive panel on pathways, scientific roles, and advice for early-career researchers. 👉 Register: wma.eventsair.com/eshg-webinar...
032
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 19/09/2026
Don’t miss the conversation shaping what’s next in human genetics. Join The Intelligent Genome: Powered by AI, Sept. 24–25, for expert-led sessions on #AI, #machinelearning, #genomics, and #precisionmedicine. 6 CE credits available. Register: bit.ly/4pLrGt7 ASHG
010
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 18/09/2026
Attending your first ASHG Annual Meeting? Join our Know Before You Go webinar on Oct. 7 at 12pm U.S. ET to gain tips for networking and building meaningful connections throughout #ASHG26. Register now to arrive ready to engage and connect: bit.ly/3VdApJ3 #ASHG #HumanGenetics
010
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 17/09/2026
Today, ASHG is at the #RallyforMedicalResearch on Capitol Hill to urge Congress to support robust, sustainable NIH funding in FY2027 and beyond. Can't join us in DC? Take action through ASHG's advocacy alert and help make medical research a national priority ➡️ bit.ly/4dGA9bW
011
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 17/09/2026
Orofacial clefts (OFCs) are common, yet their origins remain complex & highly varied. @hggadvances.bsky.social latest study identifies subtype-specific genetic associations in cleft lip, highlighting the importance of in-depth characterization of OFC subtypes: bit.ly/4hds282 #ASHG
011
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 17/09/2026
The authors of @ajhgnews.bsky.social latest article show that a common lupus risk haplotype enhances IRF7 nuclear localization, DNA binding, and type I interferon production. Their findings reveal an evolutionary trade-off between host protection and autoimmunity: bit.ly/4xkoJld #ASHG
031
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 16/09/2026
Where #humangenetics, genomics, & #AI meet: The Intelligent Genome: Powered by AI. From Sept. 24-25, join the experts turning AI's potential into practical applications across the field.🚨One week to go. Register now: bit.ly/4pLrGt7 #ASHG
011
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 15/09/2026
The best rates for #ASHG26 close TODAY at 5 PM U.S. ET. Secure your spot before rates increase and join the researchers, clinicians, and industry professionals shaping the future of human genetics and genomics in Montréal: bit.ly/4o3wfxM #ASHG #HumanGenetics
013
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 12/09/2026
@hggadvances.bsky.social sat with Carissa Sherman, PhD, and Betzaida Maldonado in the latest "Inside HGGA" to discuss their recently published paper, “Underrepresented Voices in a Colorado Biobank.”➡️ bit.ly/4r7swB4 #ASHG #HumanGenetics #GeneticsDiscoveries
bit.ly
Inside HGGA: A Chat with Carissa Sherman and Betzaida Maldonado
Each month, the editors of Human Genetics and Genomics Advances interview researchers who have published work in the journal. This month, we check in with Carissa Sherman and Betzaida Maldonado to dis...
001
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 11/09/2026
New technologies, innovative partnerships, and bold ideas await at #ASHG26. Register now to explore Industry Education and CoLab Sessions, discover emerging solutions, and build a personalized meeting experience: ashgmeeting.ashg.org/attend/register #ASHG #HumanGenetics
010
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 11/09/2026
Get the insider guide before attending #ASHG26. Register for our Know Before You Go webinar (Oct. 7, 12 pm U.S. ET) to hear practical tips on navigating the meeting, planning your schedule, finding key resources, and making the most of your time on site: bit.ly/3VdApJ3 #ASHG
000
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 10/09/2026
@hggadvances.bsky.social latest article shows that long-read sequencing aligned to the T2T-CHM13 reference genome improves variant detection across the β-globin locus in Africans with sickle cell disease: www.cell.com/hgg-advances/fulltext/… #ASHG #HumanGenetics
001
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 10/09/2026
Authors of @ajhgnews.bsky.social latest paper suggest a mechanism for sex-specific penetrance in Pilarowski-Björnsson syndrome (PILBOS), a neurodevelopmental disorder caused by CHD1 variants: www.cell.com/ajhg/fulltext/S0002-92… #ASHG #HumanGenetics
011
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 09/09/2026
We're pleased to share the results of the 2026 ASHG Board Election! Congratulations to the newly elected ASHG President-Elect and four Directors, who begin their terms on Jan. 1, 2027. Thank you to all members who voted. Meet the Board: bit.ly/3TjJXSo
011
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 09/09/2026
2 keynote speakers. 2 unique perspectives. 1 virtual symposium. Join us Sept. 24-25 to hear from Ankit Malhotra, PhD, & Gareth Hawkes, PhD, on the growing impact of AI in #humangenetics. 🎓Earn up to 6 CE / 6 CEU for #geneticcounselor credits Register: bit.ly/4pLrGt7 #ASHG #AI
011
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 08/09/2026
TOMORROW: September Journal Club webinar! Join this discussion on responsible biomedical data sharing—balancing discovery with ethical, legal, & social considerations. Register now to hear from Maya Sabatello and Ellen Wright Clayton: bit.ly/45nniah @ajhgnews.bsky.social #ASHG
042
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 04/09/2026
@ajhgnews.bsky.social sat with Kimberley Anderson, PhD, in the latest "Inside AJHG" to discuss her recently published paper, “Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.” ➡️ bit.ly/4hbuxsp #ASHG #HumanGenetics #GeneticsDiscoveries
044
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 04/09/2026
Looking for sessions to add to your #ASHG26 schedule? Hear directly from Jesse Engreitz, PhD, and Alexej Abyzov, PhD, as they share innovative advances in #humangenetics and #genomics. Register by Sept. 15 at 5 PM ET before rates increase: ashgmeeting.ashg.org/attend/register #ASHG
121
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 03/09/2026
Authors of @ajhgnews.bsky.social latest article introduce IsoRanker, a long-read transcriptome sequencing-based framework that prioritizes functionally relevant variants by detecting genes and isoforms with outlier expression, allelic imbalance, and/or NMD: bit.ly/4ybz2ZA #ASHG
002
Reposted by American Society of Human Genetics (ASHG)
The American Journal of Human Genetics @ajhgnews.bsky.social · 03/09/2026
🚨Our September issue is online! 🔖Bookmark it now for your holiday weekend reading www.cell.com/ajhg/current
011
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 03/09/2026
@mikelove.bsky.social, @rrsharp.bsky.social, & co of @hggadvances.bsky.social's latest article demonstrate that social risk factors confer substantial explanatory power beyond genetic liability alone: bit.ly/4x4qCCC #ASHG #HumanGenetics #GeneticsDiscoveries
013
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 02/09/2026
Build your AI knowledge from anywhere. Join our virtual event on Sept. 24–25 to explore how #AI and #machinelearning are accelerating discovery in #precisionmedicine. Come ready to hear from field experts and earn up to 6 CE/6 Genetic Counselor CEUs: bit.ly/4pLrGt7 #ASHG
000
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 29/08/2026
Enhance your #ASHG26 Experience Short courses & workshops offer hands-on learning, in-depth training, and practical skills to support your growth at any career stage. 🎟️Separate ticket required. Browse the events, then register: bit.ly/4gNFPD3 #ASHG #HumanGenetics
011
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 27/08/2026
Using data from two large consortia, @hggadvances.bsky.social's latest article identified genes w/ rare variants linked to multiple cancer types. The findings suggest that some rare variants influence cancer risk across a wider range of cancers than previously thought: bit.ly/4hXtoFX #ASHG
011
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 27/08/2026
In @ajhgnews.bsky.social's latest article, authors reviewed policies from 33 institutions across 17 countries, finding wide variation in how sharing data without explicit patient consent is documented. They propose baseline governance elements for better practice: bit.ly/46jb3Mh #ASHG
001
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 27/08/2026
Congratulations to the new Human Genetics Scholars Initiative cohort! 🎉 Scholars will be supported through mentorship, funding, and professional development. We're proud to work with this talented group of future leaders. Meet the Cohort: bit.ly/4c9buw4 #ASHG #HumanGenetics
010
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 26/08/2026
🚨Late-Breaking Abstract submissions for #ASHG26 close at 5 PM U.S. ET! Don't miss this chance to share impactful new findings with the global #humangenetics & #genomics community. Accepted abstracts may be selected for oral or poster presentations. 🔗 bit.ly/3PKPMpZ #ASHG
000
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 25/08/2026
Important findings don't always arrive before a deadline. Submit a Late-Breaking Abstract to #ASHG26, sharing your latest findings, datasets, or advances. Accepted abstracts may be selected for an oral session or poster.⏰Deadline: TOMORROW, 5 PM U.S. ET: bit.ly/3PKPMpZ #ASHG #HumanGenetics
000
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 24/08/2026
What happens when leading experts come together? Join ASHG's upcoming virtual symposium for two days of scientific exchange featuring opening keynotes, abstract presentations, & panel discussions on #AI & #machinelearning advances in #humangenetics: bit.ly/4pLrGt7 #ASHG
011
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 21/08/2026
New findings? Bring them to #ASHG26. Submit a late-breaking abstract with research that advances discovery, deepens understanding of genetic mechanisms, and informs clinical care. Selected abstracts may be presented as an oral talk or poster. 🔗 bit.ly/3PKPMpZ #ASHG
002
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 20/08/2026
@fritzroth.bsky.social & co of @ajhgnews.bsky.social latest article measures the impact of amino acid changes in AIRE via a multiplexed reporter assay, providing a variant effect map & enabling more accurate pathogenicity classification of missense variants: bit.ly/3SdUBcU #ASHG
043
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 20/08/2026
@hggadvances.bsky.social's latest article from @mquinodoz.bsky.social & co identifies the recurrent AP5B1 p.Leu785Pro variant as a relatively frequent cause of late-onset macular dystrophy in individuals of European and Ashkenazi Jewish ancestry.: bit.ly/4xEGCf8 #ASHG #HumanGenetics
cell.com
The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations
This international study identifies the recurrent AP5B1 c.2354T>C p.(Leu785Pro) variant as a relatively frequent cause of late-onset macular dystrophy in individuals of European and Ashkenazi Jewish a...
001
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 19/08/2026
What's on the agenda at The Intelligent Genome: Powered by AI? From multimodal data and molecular phenotypes to variant interpretation and clinical decision support, register to explore the practical use of AI across #humangenetics. 📆Sept. 24: bit.ly/4pLrGt7 #ASHG #AI #MachineLearning
000
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 17/08/2026
🎉 We’re thrilled to announce the 2026-2027 ACGT Program Cohort! They will begin in the fall, gaining valuable experience in science policy & advocacy while strengthening their ability to communicate the importance of human genetics and genomics research. 👏 Learn more: bit.ly/4qlYby9
001
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 14/08/2026
Go beyond @ajhgnews.bsky.social recent paper with authors Maya Sabatello and Ellen Wright Clayton on Sept. 9 (12 PM U.S. ET) for a Journal Club webinar discussion on responsible biomedical data sharing. Register Now: bit.ly/45nniah #ASHG #HumanGenetics #GeneticsDiscoveries
010
American Society of Human Genetics (ASHG) @geneticssociety.bsky.social · 13/08/2026
Your work is evolving—and #AI is part of the shift. By registering for our upcoming virtual symposium (Sept. 24-25), you’ll gain a cross-disciplinary view of how AI is applied to current challenges & opportunities in #humangenetics & #genomics. Register: bit.ly/4pLrGt7 #ASHG #MachineLearning
002