Latest posts tagged with #HumanGenetics on Bluesky
Explore the future of #genomic medicine in our on-demand webinar. Gain insights on #populationgenomics, genetic diversity and precision healthcare.
#GenomicDiversity #PrecisionMedicine #HumanGenetics #NGS #Bioinformatics #TranslationalResearch #LifeSciences https://tinyurl.com/22rrhma8
Exciting insights from the 2025 ASHG address in Boston: advancing genetics with 10 key breakthroughs impacting 7 diseases! #HumanGenetics PMID:41795467, Am J Hum Genet 2026, @AJHGNews www.cell.com/ajhg/fulltext/S0002-9297... #Medsky #Pharmsky #RNA #ASHG #ESHG 🧪
@hggadvances.bsky.social's latest article introduces practical approaches for leveraging multiple observations to assess impacts on GWAS power, SNP-heritability, gene set enrichment, and polygenic prediction: www.cell.com/hgg-advances/fulltext/S2... #ASHG #HumanGenetics
The #ACMGMtg26 exhibit hall is open—and it comes at a meaningful time as we recognize #MedicalGeneticsAwarenessWeek & the professionals advancing the #humangenetics and genomics field. Visit us at Booth 1929 to learn how #ASHGmembership supports your career and get updates on upcoming programs.
Great paper from @carafuentes-neph.bsky.social !!
Tackling #nephroticsyndrome from many angles, better treatments are on the horizon!
Congrats Gabriel & team!!!!
#FSGS #pediatricnephrology #NephSky #SkyNeph #humangenetics
@science.org
www.science.org/doi/10.1126/...
Authors of @hggadvances.bsky.social's latest article develop BAF-Wald, a pathogenicity predictor for subunits of the BAF chromatin remodeling complex. The use of gene-specific features allows BAF-Wald to outperform other variant-effect prediction tools: https://bit.ly/3Ng9aKt #ASHG #HumanGenetics
Rare diseases affect approximately 300 million people worldwide. Over 70% are genetic, yet many still face diagnostic delays and limited access to care.
Advancing #HumanGenetics research is essential for better diagnosis and lifelong outcomes. 🧬
#RareDiseaseDay #RareButNotAlone
Apparently, women have _always_ liked a bit of rough when it comes to mating...
#Genetics #HumanGenetics #Genealogy
#Science
www.theguardian.com/science/2026/feb/26/male...
Research from @ajhgnews.bsky.social's latest article reports false-positive newborn screening tests for SMA in two healthy children. Rapid functional testing of rare SMN1 variants provided clarity to families & saved millions in unnecessary treatments: https://bit.ly/4kHtSPD #ASHG #HumanGenetics
Adriaan van der Graaf, PhD
@ajhgnews.bsky.social sat with @adriaan-vd-graaf.bsky.social in the latest "Inside AJHG" to discuss his recently published paper, “Mendelian randomization linking metabolites with enzymes reveals pathway regulation and therapeutic avenues.”➡️ bit.ly/46di69J #ASHG #HumanGenetics
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
Years of research with animal models led to answers to families with a child with undiagnosed conditions. D. Calame and @jesse-levine.bsky.social. blogs.bcm.edu/2026/02/10/f... @bcmhouston.bsky.social @gregor-research.bsky.social @ajhgnews.bsky.social #HumanGenetics #TexasChildrens
Authors of @hggadvances.bsky.social latest article employ the STAAR framework to enhance the strength of gene-based analyses, thereby improving statistical validity & consistency in identifying rare variant associations in WGS data from a large, diverse cohort: bit.ly/4kgxEzn #ASHG #HumanGenetics
The latest @ajhgnews.bsky.social article from @dnalawyer.bsky.social & colleagues offers a perspective on the U.S. legal landscape regarding the promotion of competition, with specific attention given to the human genetics and genomics industry: bit.ly/3Z1b18i #ASHG #HumanGenetics
Our PhD student Syrine presented her work at the "Assises de Génétique Humaine et Médicale" in Cannes. Bravo to her for a great poster!
@pasteur.fr @ipdbsc.bsky.social @chem4life.bsky.social #PhDLife #Genetics #HumanGenetics #Research #InstitutPasteur #ScientificConference
Enjoyed today’s webinar? Come back tomorrow at 12 PM ET for insights from NHGRI's extramural leadership on the latest NIH/NHGRI policy, structural, and priority changes—including foreign collaborations, data sharing, & funding opportunities. Register now: https://bit.ly/464LpLq #ASHG #HumanGenetics
⏰TOMORROW: Register for this ASHG webinar to learn how partnerships are strengthening genomics training programs for paraprofessionals—get an inside look at four innovative programs helping to boost skills, access, and workforce representation: https://bit.ly/3Kvl4Pg #ASHG #HumanGenetics
🚨 6th HAAM-RADIO Webinar
🌍 African Population Demography and Social Organizations of the Past
🗓️ Wed, 28 Jan 2026
Register here:
👉 forms.gle/FuBTTX4wreW4...
#AncientDNA #HumanGenetics #AfricanHistory #HAAM #Webinar
@abinstitute.bsky.social @cesarforteslima.bsky.social
@hildegunnink.bsky.social
🚨TODAY at 11 AM ET: The #ASHG Digital CoLab w/ @pacbio.bsky.social! Discover how population-scale long‑read WGS expands structural variant detection, enables novel disease associations, & informs research across populations. Don't wait; register now: https://bit.ly/3NB1Mck #ASHG #HumanGenetics
🚨5:00 pm EST TODAY is the deadline for Featured Symposium & Interactive Workshop proposals!🚨Finalize your submission today and secure your chance to present your ideas on an international stage. This is your moment—submit now before time runs out: https://bit.ly/3MgrxxW #HumanGenetics #ASHG
📰New & Featured | A new Cell study discovered #CARD9 inhibitors with anti-inflammatory activity
🌟Blocks NF-κB and cytokine release in humanized CARD9 mouse model
💡A truncated variant of CARD9 has potential protective effect against Crohn's disease
#HumanGenetics
📢 The January issue is now online! 🧬
Recent studies, new perspectives, and key advances in #HumanGenetics, all in the first issue of the year ⬇️
www.nature.com/ejhg/volumes...
Get involved with #ASHG—volunteer, become an ASHG advocate, or donate to support us in advancing #humangenetics. Start here ➡️ https://www.ashg.org/membership/get-involved/ #MLKdayofservice
2016 called—they want to see what you’ve been up to. Submit your ideas for Featured Symposia and Interactive Workshops by January 20 at 5:00 PM U.S. ET: https://www.ashg.org/annual-meeting-2026/ #ASHG #HumanGenetics
ASHG Program Committee Chair Cassandra Spracklen, PhD, presenting during the ASHG 2025 Annual Meeting.
The clock is ticking—Jan 20 is the proposal deadline for Featured Symposia & Interactive Workshops! Make the most of the holiday weekend & finalize your submission for #ASHG26 in Montréal. We’re excited to receive your ideas. Submit now: https://www.ashg.org/annual-meeting-2026/ #ASHG #HumanGenetics
📢 @kiranmusunuru.bsky.social begins his term as @ajhgnews.bsky.social Editor-in-Chief with an inspiring editorial: sharing his excitement for the future of interventional genetics and reaffirming the journal's commitment to publish the most exciting #humangenetics research: bit.ly/45dEZcJ #ASHG
Ready to take the next step in your career path? The #PRBB offers you an ideal environment to grow and thrive! 🤩
#Pharmacology #ClinicalPathophysiology
#HumanGenetics #EvolutionaryBiology #Epidemiology #PublicHealth
Check out our #joboffers 👉https://www.prbb.org/carrera.php#Ofertas-empleo
CIMA maps cell type–specific regulatory networks by integrating scRNA-seq, scATAC-seq & genetics across 10M+ PBMCs, revealing causal links to immune-mediated diseases.
#SingleCell #Genomics #Immunology #MultiOmics #scRNAseq #scATACseq #HumanGenetics @science.org www.science.org/doi/10.1126/...
By probing #LLM knowledge across 10,000 rare diseases, @HGGAdvances' latest article clarifies limitations of these models and supports development of hybrid approaches that combine curation with selectively integrated model-derived knowledge: https://bit.ly/4pvdxOI #ASHG #HumanGenetics
Colleen Campbell, PhD, MS, LGC, presenting during the ASHG 2025 Annual Meeting in Boston, MA.
Want to know what makes a Featured Symposium or Interactive Workshop proposal stand out? Join our Jan 13 live Q&A for insider tips on what reviewers look for. Register for the Q&A now—then lock in your proposal by Jan 20: https://learning.ashg.org/p/ashg2026-qa #ASHG #HumanGenetics
