It’s us! Have a read and let us know if you can collaborate on genetic literacy as an intervention to improve clinical care

In @ajhgnews.bsky.social's latest article, @jamesfasham.bsky.social & co use microarray and genome sequencing to show that copy-number gains at 16p13.3 cause a severe, recognizable disorder characterized by early-onset, progressive ataxia and cognitive decline: bit.ly/3MKEOz2 #ASHG #HumanGenetics

📣 New from Anderson et al! 📄De novo variants in KDM2A cause a syndromic neurodevelopmental disorder

📣New from Wheeler & co! 📄MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism

📣 New from Rekerle et al! 📄 GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders @ga4gh.org

📣 New from @girlscientist.bsky.social & co! 📄 Interaction of identity and beliefs with genetic literacy

📣 New from Krebs et al! 📄 The relationship between genotype- and phenotype-based estimates of genetic liability to psychiatric disorders, in practice and in theory

📣 New from Zaslavsky et al! 📄 Low population penetrance of variants associated with inherited retinal degenerations

📣New from @tdrivas.bsky.social & co! 📄Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population

📣New from Han, Sun & co--your eyes aren't fooling you! 📄MIRAGE: A Bayesian statistical method for gene-level rare-variant analysis incorporating functional annotations 🖥️ xinhe-lab.github.io/mirage/

🎉 Join us in thanking outgoing Editor-in-Chief Bruce Korf for his years of leadership and commitment to advancing human genetics & genomics! 👏👏👏 Read his farewell Editorial, Transitions in interesting times: bit.ly/44upBZ9

📣 New from Chen et al! 📄 Genetic control of non-coding RNAs in the human brain and their implications for complex traits

Our new study defines a distinct #neurogenetic condition arising from recurrent structural variants at 16p13.3 palindrome. Individuals show progressive ataxia, cognitive decline, and a characteristic MRI pattern with caudate & cerebellar atrophy. #Genomics #RareDisease 🧵1/3

In a related recent AJHG study @ajhgnews.bsky.social , we demonstrate that several melanoma mutations previously classified as coding are in fact non-coding when evaluated against expressed transcripts. 📄 www.cell.com/ajhg/fulltex... #PrecisionMedicine #CancerGenomics

@ajhgnews.bsky.social latest study from @alkhawaja.bsky.social, @klmohlke.bsky.social, & co uses single-nucleus approaches to map genetic variants associated with chromatin accessibility & gene expression across liver cell types. Read the full study: www.cell.com/ajhg/fulltex... #ASHG #HumanGenetics

Research suggests that #AlzheimerDisease may develop through distinct biological pathways. J. Deger, J. Shulman, H. Bellen, Z. Liu et al. @bcmhouston.bsky.social @ajhgnews.bsky.social blogs.bcm.edu/2025/12/11/f...

@ajhgnews.bsky.social sat with Alejandro Mejia-Garcia, MSc, in the latest "Inside AJHG" to discuss his recently published paper, “Using the ancestral recombination graph to study the history of rare variants in founder populations.”➡️ www.ashg.org/ajhg/inside-... #ASHG #GeneticsDiscoveries

This work has recently been published at @ajhgnews.bsky.social! First author being an undergrad student @lcgej.bsky.social and with contributions by Emilia Huerta-Sánchez and @mashaals.bsky.social www.cell.com/ajhg/abstrac... #LIIGHColloquium2025 @liigh-unam.bsky.social

another great international collaboration with our friends in UK and Australia to which we could contribute, describing a very unique disease mechanism for a novel neurodegenerative disorder #genetics #raredisease @ajhgnews.bsky.social @jamesfasham.bsky.social @rdexeter.bsky.social

📣New from @rdexeter.bsky.social 📄Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

Our December issue is online! Check out the latest #genetics & #genomics research, review, and discussion! www.cell.com/issue/S0002-...

📣New from Li et al! 📄Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for #cancer prevention

📣New today! 📄Liver single-nucleus multiome profiling reveals cell-type mechanisms for cardiometabolic traits 🧑‍🤝‍🧑 @alkhawaja.bsky.social @klmohlke.bsky.social & co

A new study in AJHG led by UW Epi professor Alison Fohner shows what students truly need in the AI era: critical thinking, data discernment & cross-disciplinary teamwork—plus 17 actionable competencies to help graduate programs future-proof training.

📣New Perspective from Martinelli et al! 📄Interpreting the functional impact of genetic variants: The need for context qualifiers

📣New from Blair & Risch 📄Residual allelic activity likely underlies the low rates of disease expression for predicted loss-of-function variants in population-scale biobanks

Breaking: New Perspective Released. Published in @ajhgnews.bsky.social, we provide a policy analysis highlighting the importance of responsible data sharing in human genetics and genomics research to build sustainable partnerships and a cohesive information ecosystem: www.ashg.org/advocacy/per...

Circulating proteins play crucial roles in complex diseases, yet pQTL studies in non-European populations remain limited. A new study in @ajhgnews.bsky.social uncovers protein associations w/ Arctic-enriched variants, underscoring the value of genomics in diverse populations: bit.ly/447lYYI #ASHG

📣New from Bresack et al! 📄Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia

📣New today! 📄Training competencies and recommendations for the next generation of public health genetics: Reflections from current leaders in the field 🧑‍🤝‍🧑 @dianexue.bsky.social @genandgenes.bsky.social & co

#apaperaday Today's pick is a commentary by Ahrens-Nicklas and Musunuru in @ajhgnews.bsky.social to the plausible mechanism publication in NEJM featured recently. The authors were involved in the individualized base editing therapy development (earlier #apaperaday). DOI: 10.1016/j.ajhg.2025.10.006

📣New from Muller & colleagues! 📄Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

Authors of @ajhgnews.bsky.social's latest article use ancestral recombination graph inference to trace the history of rare variants in Quebec. This approach could be used to inform rare disease screening programs across founder populations: www.cell.com/ajhg/abstrac... #ASHG #HumanGenetics

📣 New from @yosephbarash.bsky.social & co! 📄 A deep dive into statistical modeling of RNA splicing QTLs reveals variants that explain neurodegenerative disease 🖥️ bitbucket.org/majiqtl/maji...

📣 New from Stinson et al. 📄 Genetic regulation of the plasma proteome and its link to cardiometabolic disease in Greenlandic Inuit

"How to create personalized gene editing platforms: Next steps towards interventional genetics" spkl.io/63326AbgN6 @ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social @ajhgnews.bsky.social

🚨Proud to have co-authored this paper with an incredible team! We propose practical reporting standards to improve transparency, reproducibility, and data stewardship in paleogenomics 🧬🦴

The pharmacogenetics community needs transparent, evidence-based gene-drug guidelines. @ajhgnews.bsky.social' latest article outlines @cpicpgx.org’s framework to assign allele function & encourages global feedback to boost clinical adoption: www.cell.com/ajhg/abstrac... #ASHG

Our November issue is out! Check out the latest human #genetics & #genomics research 👉 www.cell.com/ajhg/current

📣 New from @dnatimetravel.bsky.social & co! 📄 Lessons learned: Recommendations for reproducible paleogenomic data analyses 👉 bit.ly/494k2ni

📣New from Park & Xing! 📄Origins and implications of intron retention quantitative trait loci in human tissues

📣New today! 📄The Clinical Pharmacogenetics Implementation Consortium’s consensus-based framework for assigning allele function [email protected]

Read more about how doctors at CHOP are advancing personalized gene editing therapy (tinyurl.com/23c5vzd9)

Read more about today's paper (tinyurl.com/23c5vzd9) from @ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social that discusses regulatory innovation in the pathway toward interventional genetics!

Can personalized treatment become the standard of care? Just published in @ajhgnews.bsky.social, @kiranmusunuru.bsky.social, MD, PhD, and @ahrensnicklas.bsky.social, MD, PhD, explore their vision for the future of interventional genetics: www.cell.com/ajhg/fulltex... #ASHG #HumanGenetics

Tune in soon to hear more from @kiranmusunuru.bsky.social & @ahrensnicklas.bsky.social !!

In this article, SCGE researchers Rebecca Ahrens-Nicklas and Kiran Musunuru discuss the next steps towards creating personalized gene editing platforms. Read the full paper at: www.cell.com/ajhg/fulltex... @ahrensnicklas.bsky.social @kiranmusunuru.bsky.social

🚨Online NOW!! 📄How to create personalized gene editing platforms: Next steps toward interventional genetics 🧑‍🤝‍🧑 @ahrensnicklas.bsky.social & @kiranmusunuru.bsky.social

#FruitFlies Shed Light on How Human #Alzheimer’s Risk #Genes Impact the #Brain. J. Deger, J. Shulman, H. Bellen et al. #bcmneurology #bcm_neurosci @bcmhouston.bsky.social @bcmgenetics.bsky.social #TCHResearchNews @ajhgnews.bsky.social bioengineer.org/fruit-flies-...

📣 New from Johnatty et al! 📄BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict #breastcancer risk in heterozygotes