@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

🧬New from @sdtemple.bsky.social et al! 📄Multiple-testing corrections in case-control studies using identity-by-descent segments

🎙️Listen to @basebybase.bsky.social to learn more about the latest work from Wirth & colleagues!

An impressive win resolving uncertainty for families and clinicians 🏆 work partly funded by the Australian Functional Genomics Network 🤩🇦🇺🧬🐟

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

See how translating findings from animal research to human health provides much-needed answers for families whose children had gone undiagnosed. D. Calame and @jesse-levine.bsky.social @bcmhouston.bsky.social @gregor-research.bsky.social @ajhgnews.bsky.social nationaltoday.com/us/tx/housto...

🧬New from Wirth et al! 📄SMN1 variants identified by false-positive #SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions

🧬New from Wightman et al! 📄Rare-variant aggregation highlights disease-linked genes associated with brain volume variation

Mendelian Randomization is powerful but often debated. We benchmarked it against the "ground truth" of human metabolic pathways to see how often it gets it right. 🧬 Result: MR is robust! It matches known metabolism in 43% of cases and identifies valid drug targets. www.cell.com/ajhg/fulltex...

🧬New from Golebiewski et al! 📄An endothelial RNA splicing atlas catalogs effects of IL-1β and identifies an alternative PROCR isoform with genetic links to pleiotropic vascular disease

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

Thanks to @basebybase.bsky.social for covering our @ajhgnews.bsky.social paper on genetic literacy! Great summary of how people understand and relate to genetics.

Ancient DNA enables allele observation over time, but only ∼1.23 million ancient loci are publicly available. Overcoming this limitation, this @ajhgnews.bsky.social article by @colinmbrand.bsky.social & co creates a catalog of ancient genotyped proxies for modern variants based on LD. #ASHG

🧬New in today's issue! 📄Mendelian randomization linking metabolites with enzymes reveals pathway regulation and therapeutic avenues 🧑‍🤝‍🧑 @zkutalik.bsky.social & co

🧬New from @burcudarst.bsky.social & co 📄Validation and context-dependent effects of a prostate cancer polygenic risk score in the #AllofUs Research Program

🧬New in today's issue! 📄Expanded chromatin accessibility mapping explains genetic variation associated with complex traits in liver 🧑‍🤝‍🧑 @bvoight28.bsky.social @maxdudek.bsky.social & co

Our February issue is online NOW! Check it out to catch up on the latest human #genetics & #genomics research www.cell.com/ajhg/current

Terrific to see this out! 10 years of variant interpretation courses delivered to >1000 participants 👏👏👏 And of course thoroughly evaluated 😁🇦🇺

📣New from Chacon-Millan et al! 📄Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking

📣New from Nisselle & co! 📄Variant interpretation training for the #genomics era: Learning outcomes to inform professional competencies and education

Join us on February 13th, 12pm ET/ 9am PT for the next ELSI Friday Forum: “Just CRISPR: Is interventional genetics for rare diseases scalable?” Speakers: @kiranmusunuru.bsky.social , MD, PhD, MPH; Tania Simoncelli, MS Moderator: Marsha Michie, PhD Register: www.addevent.com/event/8lglq4...

I'm happy to share another publication from my team out today! Gratitude and congratulations to Abdulai Rashid, Nicole Rincon, and Nathan Rihani for this collaboration. www.cell.com/ajhg/fulltex...

Neil Risch and his BARI team have a paper out in AJHG: Predicted loss-of-function variants linked to serious diseases often don’t show up as expected in big biobanks. Why? Residual activity from the variant allele keeps some function going (leaky penetrance).

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

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

Some important new DECIPHER features released by @deciphergenomics.bsky.social today, including a new management/therapies tab, and links to single gene disorder guides from @uniquecharity.bsky.social

📣New from @colinmbrand.bsky.social & Tony Capra! 📄AncientProxy: A catalog of ancient proxies for modern genetic variants 🖥️ github.com/brandcm/Anci...

To investigate the genetic regulation of fatty acids (FA) across tissues, @kerrinsmall.bsky.social & co of @ajhgnews.bsky.social's latest study profiles FA content in adipose tissue biopsies, identifying loci that regulate fatty acid content in cardio-metabolic tissue: bit.ly/45lSO92 #ASHG

By combining human genetics with functional studies, we demonstrate that homozygous loss-of-function variants in MDGA2 impair synaptic membrane trafficking and neuroligin-mediated signalling, causing a severe form of developmental and epileptic encephalopathy @uclqsion.bsky.social

📣 Online now! 📄MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy 🧑‍🤝‍🧑 @hmorsy.bsky.social @reza-maroofian.bsky.social & co www.cell.com/ajhg/fulltex...

📣 New Perspective from @dnalawyer.bsky.social & co! 📄Competition in human genetic technologies: The current US legal landscape #ELSI #FTC #genetics

📣 New from @hakyim.bsky.social & co! 📄A gene-specific variance-control approach corrects polygenicity-driven inflation observed in transcriptome-wide association studies

Researchers have designed a new genome-editing platform to functionally classify genetic variants associated with inherited platelet disorders such as fetal and neonatal alloimmune thrombocytopenia (#FNAIT). @ajhgnews.bsky.social#FNAIT Read here: https://bit.ly/4r2zlSX #RareDisease #MedSky

Excited to share our latest work in @ajhgnews.bsky.social 🧬📄 We mapped the regulatory landscape of human liver at single-nucleus resolution using snMultiome, connecting genetic variants to the cell-type mechanisms underlying cardiometabolic disease. www.sciencedirect.com/science/arti...

New work from the Wheeler lab shows DNA repair gene MSH3 modifies disease: variants that boost repeat expansion cause earlier onset, while those promoting contraction delay onset—in blood and brain. Targeting MSH3 could delay or prevent X-Linked Dystonia Parkinsonism (XDP)

Register for our upcoming January webinars delivering insights you can put to work! 🗓️1/21: (Webinar) Digital CoLab w/ @pacbio.bsky.social 🗓️1/27: (Webinar) Expanding Genomics Training 🗓️1/28: (Webinar) Update on Recent Changes at NIH & NHGRI Stay ahead: https://bit.ly/49FjRh0 @avahoffman.com #ASHG

📣 New from Lupski & colleagues! 📄 Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

📣Online now! 📄Genetic regulation of fatty acid content in adipose tissue 🧑‍🤝‍🧑 @kerrinsmall.bsky.social @jordanatbell.bsky.social & co

📢 @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

Join us tomorrow to hear more about our recent paper—I promise it will be a raging online party* *ok I can’t promise that but it will be good

⏰TOMORROW’s the day! Join our LIVE Journal Club webinar to hear directly from the authors behind the @ajhgnews.bsky.social paper on scalable approaches for rare disease detection. Be there at 12:00 PM ET: https://learning.ashg.org/products/detecting-rare-genetic-disorders-at-population-scale #ASHG

TODAY at noon Eastern!!

MSH3 variation modifies the age of onset of X-linked dystonia Parkinsonism (XDP). @AJHGNews' latest article reveals that MSH3 also influences the somatic instability of the disease's pathogenic repeat expansion, identifying a potential therapeutic target for XDP: https://bit.ly/4pvpgNq #ASHG

The #DNADay26 Essay Contest is HERE! 🧬This year’s challenge: Analyze a genetic treatment or therapy developed or widely used in recent years. Teachers—help your students share their ideas with the world! Submit by March 4 👉 https://www.ashg.org/dna-day/ #ASHG

📣 New from Di Donato et al! 📄Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies

@ajhgnews.bsky.social sat with Kirill Zaslavsky, MD, PhD, in the latest "Inside AJHG" to discuss his recently published paper, “Low population penetrance of variants associated with inherited retinal degenerations.”➡️ www.ashg.org/ajhg/inside-... #ASHG #GeneticsDiscoveries

Ready for your next step to your future in genomics? Applications for the ASHG-NHGRI Post-Baccalaureate Genomics Analyst Fellowship are OPEN—submissions close Feb 1! Gain in-depth experience, learn from field leaders, and influence progress in #humangenetics research. Apply now: bit.ly/44WDkbq #ASHG

Our new issue includes a welcome Editorial from new EiC @kiranmusunuru.bsky.social www.cell.com/ajhg/fulltex...

It's here--our first issue of 2026 & it's full of exciting human genetics & genomics research! www.cell.com/ajhg/current

Start 2026 off right-register today for next week's journal club! Kyle Retterer will discuss scalable methods for genomic-first ascertainment of rare disorders—based on research published in AJHG! Join us on January 14 at noon Eastern: bit.ly/4oY7qlO #ASHG