American Society of Human Genetics (ASHG)
@geneticssociety
🧬Founded in 1948, the American Society of Human Genetics (ASHG) is the primary professional membership organization for #humangenetics specialists worldwide. www.ashg.org
AI is reshaping the future of #humangenetics & #precisionmedicine. Join ASHG’s Virtual Symposium, The Intelligent Genome: Powered by AI (Sept. 24–25), for expert insights, real-world approaches, & up to 6 CE & 6 CEU credits for Genetics Counselors. Register: https://bit.ly/4whJs9K #ASHG
By engineering POGZ variants in human iPSCs, the authors of @hggadvances.bsky.social's latest article identified molecular "hubs" where POGZ converges w/ other neurodevelopmental disorder risk genes to disrupt synaptic signaling and extracellular matrix integrity: https://bit.ly/4hnIbt1 #ASHG
Polygenic risk & family history separately predict coronary heart disease. Adding them to pooled cohort equations, the authors of @ajhgnews.bsky.social's latest article show improved risk discrimination & net benefit, supporting their use in risk algorithms: https://bit.ly/4hlsQsS #ASHG
How can MPRA design shape insights into type 2 diabetes-associated gene regulation? Join our August 8 Journal Club webinar at 12 pm U.S. ET as @adel-aide.bsky.social shares findings from her @hggadvances.bsky.social's latest article. Register now: https://bit.ly/4vuVqf3 #ASHG #HumanGenetics
Where ideas connect & science advances. Special symposia at #ASHG26 explore topics shaping the future of human genetics & genomics—from public trust in science to global collaboration and discovery Register before early-bird pricing ends Aug 12: https://bit.ly/4o3wfxM
By exploring the relevance of cohesin release factors in Mendelian disease, the authors of @ajhgnews.bsky.social's latest article identified a WAPL-related disorder & provided genomic evidence for WAPL as a driver gene in the 10q genomic disorder region: https://bit.ly/3T0Gc3J #ASHG #HumanGenetics
Genetic literacy shapes how society interacts w/ genetics—but existing measures lack knowledge comprehension & psychometric validation. @girlscientist.bsky.social & co of @hggadvances.bsky.social's latest article validate EAGL, identifying 2 multi-domain measures for wide use: https://bit.ly/4fe0uy6
Chromosomal structural variants remain a diagnostic challenge. Authors of @hggadvances.bsky.social's latest article apply a personalized, integrative genomic approach, revealing that it improves diagnosis, reduces delays & uncovers new disease associations: https://bit.ly/4f97xIC #ASHG
@pejminister.bsky.social & co of @ajhgnews.bsky.social's latest article present latent data-driven RNA phenotyping (LaDDR). This method boosts discovery of regulatory variation & gene-trait associations & can be integrated w/ knowledge-driven RNA phenotypes: https://bit.ly/3T043jZ #ASHG
@ajhgnews.bsky.social sat with @nbaya.bsky.social in the latest "Inside AJHG" to discuss his recently published paper, “Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease.“➡️ https://bit.ly/4wpciEI #ASHG #GeneticsDiscoveries
AI is transforming genetic research. Join our July 8 Journal Club to see what’s possible with MARRVEL-MCP. 👉 Register now: https://learning.ashg.org/products/ai-powered-genetic-research-through-marrvel-mcp #ASHG #AI #HumanGenetics @ajhgnews.bsky.social
We had a fantastic time on Capitol Hill at the Life Science Fair hosted by @c4lifesciences.bsky.social and the Congressional Biomedical Research Caucus🏛️✨ ASHG staff and members connected with legislators, highlighted the impactful work of ASHG members, and even brought hands-on science activities🧬
The ASHG Program Committee brought the power of human genetics and genomics research to Capitol Hill, where they shared how the work you do and resources like the All of Us Research Program are advancing medicine and strengthening public health.
By integrating genetic and metabolomic data from the Swiss HIV Cohort Study, the authors of @hggadvances.bsky.social's latest article gained key insights to improve clinical management of individuals with HIV: https://www.cell.com/hgg-advances/fulltext/S2666-2477(26)00075-8 #ASHG #humangenetics
🚨Today is the deadline (June 22)! Submit your abstract for ASHG’s Virtual Symposium, The Intelligent Genome: Powered by AI (Sept 24–25). We’re looking for emerging research, case reports, & applied AI/ML innovations in genomics & precision medicine. Don’t miss your chance—submit now: bit.ly/3QDNidF
Using adaptive nanopore sequencing, the authors of @hggadvances.bsky.social's latest article developed a haplotype-resolved X-chromosome inactivation analysis workflow, providing a practical framework for selected X-linked disorders with variable expressivity: https://bit.ly/4etv0Us #ASHG
#ESHG2026 is underway—and we’re on the exhibit floor! Find us at Booth #254 to connect with our team, see how #ASHGmembership can support your professional journey, and get the latest on upcoming programs. @eshg.bsky.social #ASHG #HumanGenetics
Help shape the future of AI in precision medicine. Abstracts are open for ASHG’s Virtual Symposium, The Intelligent Genome: Powered by AI We’re seeking emerging research, case reports, and applied AI/ML innovations in genomics. Submit now and be part of the conversation. https://bit.ly/3QDNidF
Developed by authors @yunfeng-ruan.bsky.social, @pnatarajanmd.bsky.social, & co. of @ajhgnews.bsky.social's latest article, DiscoDivas—a genetic-distance-assisted framework— improves PRS predictive performance for admixed individuals: www.cell.com/ajhg/fulltex... #ASHG #HumanGenetics
@hggadvances.bsky.social's latest article presents a multiomic study of idiopathic scoliosis that helps to elucidate disease mechanisms & enable therapeutic and biomarker development: https://bit.ly/3QpfUaq #ASHG #HumanGenetics #GeneticsDiscoveries
Have questions about RNUopathies & how RNU6ATAC was identified as a disease-associated gene? Join tomorrow's Journal Club webinar & get the answers directly from @hggadvances.bsky.social author Hector Rodrigo Mendez, MD: https://learning.ashg.org/products/rnuopathies-a-new-frontier-in-genetics #ASHG
@ajhgnews.bsky.social sat with Xinyu Sun, in the latest "Inside AJHG" to discuss his recently published paper, “Multi-ancestry transcriptome-wide association study reveals shared and population-specific genetic effects in Alzheimer’s disease.” ➡️ https://bit.ly/4x82Uqg #ASHG #HumanGenetics
Authors of @ajhgnews.bsky.social's latest article present MARRVEL-MCP—a natural-language interface that equips LLMs with 44 genomic tools for rare disease variant interpretation: https://bit.ly/4nZd1cK Learn more during our July 8 LIVE webinar with Hyun-Hwan Jeong, PhD: https://bit.ly/4nYuFgF #ASHG
By integrating genetics and functional assays, @hggadvances.bsky.social's latest study identifies HAVCR1 as the effector gene at the hyperlipidemia-associated 5q33.3 locus, revealing how multiple regulatory mechanisms can converge on a single GWAS locus: https://bit.ly/4a9keBh #ASHG #HumanGenetics
ASHG is excited to announce Charles Lee as the new Editor-in-Chief of @hggadvances.bsky.social! He brings exceptional scientific leadership, editorial expertise, and a deep commitment to advancing human genetics and genomics. Join us in congratulating Dr. Lee! Read more: https://bit.ly/4uHdOSa
Using 243 primate whole genomes, @hggadvances.bsky.social's latest article identifies over 8K brain-active elements that show human-specific positive selection, shape gene expression differences, & are enriched for neuropsychiatric disorders: https://bit.ly/4f4hl8e #ASHG #HumanGenetics
@ajhgnews.bsky.social's latest Review summarizes the current understanding of CGG repeat polymorphisms in gene regulation and their mechanistic roles in disease, emphasizing both convergent and distinct pathogenic pathways across CGG expansion disorders: https://bit.ly/4uyDK2b #ASHG #HumanGenetics
2 dates. 2 expert sessions. 1 smart move—register for both! May 27: Industry Pathways in Genetics and Genomic Science (co-hosted w/ @eshg.bsky.social) June 10: RNUopathies: A New Frontier in Genetics (Journal Club w/ @hggadvances.bsky.social) 👉 Join us: https://learning.ashg.org/ #ASHG
What does it really mean for a trait to be “polygenic”? @lukeoconnor.bsky.social & Guy Sella, authors of @ajhgnews.bsky.social's latest article, define polygenicity from first principles, introducing clear, quantitative measures: https://bit.ly/49bCsld #ASHG #HumanGenetics #GeneticsDiscoveries
Polygenic scores often underperform in individuals with recent genetic admixture, limiting their clinical & research utility. @hggadvances.bsky.social's latest article presents HAUDI—a scalable method leveraging local ancestry information to improve prediction accuracy: https://bit.ly/4vgjDGj