🧬New from @eichlerlab.bsky.social 📄Complete chromosome 21 centromere sequencing of families with Down syndrome 🧑‍🤝‍🧑 @glennislogsdon.bsky.social @fkma.bsky.social & co

🧬New today! 📄Genome-wide analysis implicates inner ear development in Ménière disease 🧑‍🤝‍🧑 @zhuozshi.bsky.social @mathiesoniain.bsky.social & co

Now published in AJHG: the HiFi Solves EMEA Consortium shows that a single PacBio HiFi whole genome, combined with Paraphase, can resolve clinically relevant variants in highly homologous genes and pseudogenes. Read the study: bit.ly/4v0TdZq #ClinicalGenomics #PacBio #HiFiSolves

Researchers at @bcmgenetics.bsky.social, with the Undiagnosed Diseases Network and international collaborators, identified a new genetic disorder tied to TMEM63B variants causing severe early-onset lung disease. Read more about the discovery published in AJHG: www.bcm.edu/news/novel-d...

Bart van der Sanden (Radboudumc) Paraphase alignment / variant caller (PacBio HiFi) Solved 125 variants in paralagous genes Vs 95 Standard HiFi 11 genes, but might replace 134 locus-specific assays - requires good coverage www.cell.com/ajhg/abstrac... #ESHG2026 #IKBKG #PKD1 #PMS2

🧬New from @tesmersha.bsky.social & co! 📄Trust, mistrust, and the promise of #AI in #genomics for African populations

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

🧬New from Mechol & colleagues! 📄Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder

@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

For those interested in studying cell-cell communication, check out our latest methodological work in AJHG where we discuss more powerful and practical techniques for this task. Project was joint effort with @yjingj.bsky.social and led by our incredible trainee Dr. Qile Dai (now at Lilly)

Congrats to all co-authors from out HiFi-Solves EMEA consortium! www.pacb.com/hifi-solves/ This study was driven particularly by the great @bartvds.bsky.social; with important contributions from Hanno Jörn Bolz Johannes Zschocke Malte Spielmann and their teams.

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

🧬New from @ahoischen.bsky.social & co! 📄HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

Our June issue is online! Check it out: www.cell.com/ajhg/current

🧬Online now! 📄Identifying condition-related cell-cell communication events using supervised tensor analysis 🧑‍🤝‍🧑 @epsteinstatgen.bsky.social @yjingj.bsky.social & Dai 🖥️ github.com/daiqile96/ST...

Remembering Pat Jacobs

🪩Online now! 📄DiscoDivas: Leveraging genetic-ancestry continuum information to interpolate PRS for admixed populations 🧑‍🤝‍🧑 @yunfeng-ruan.bsky.social @pnatarajanmd.bsky.social & co 🖥️ github.com/YunfengRuan/...

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

This new computational approach allows users to ask questions in plain language, such as, “Is this BRCA1 #gene mutation linked to #cancer?” Z. Liu, H-H Jeong et al @ajhgnews.bsky.social @bcmhouston.bsky.social #AI blogs.bcm.edu/2026/05/28/f...

@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

🧬New Perspective from @oligogirl.bsky.social & co! 📄Guidance on communication and informed consent with patients and their families for experimental individualized treatments

🧬 New from @alessandrachesi.bsky.social & co! 📄Integrative genomics and single-cell #CRISPRi screening dissect #Alzheimer GWAS non-coding variants regulating TSPAN14

And the second N=1 Collaborative paper is out now, @erdera.bsky.social N=1 treatment work package effort, in collaboration with N1C experts: a guidance on communication and consent for individualized ASO development is published in @ajhgnews.bsky.social www.sciencedirect.com/science/arti...

New PaperCast: Monoallelic PSMB8 variants disrupt immunoproteasome assembly and cause PRAAS with immunodeficiency via a dominant-negative mechanism — episode 378. Listen https://basebybase.com/episodes/monoallelic-psmb8-praas-id-immunoproteasome-assembly @ajhgnews.bsky.social

📣New Review from Jin, Nelson, Kooy & co! 📄Polymorphic CGG repeats in gene regulation and disease

🥳 Another great collaboration! New MOI for an established gene @diseasegenes.bsky.social these are always trickier to spot!

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

🧬New from Everton et al! 📄MARRVEL-MCP: An agentic interface for Mendelian disease discovery via tool-augmented context engineering 🖥️ github.com/hyunhwan-bcm...

🧬New from Wijngaard et al! 📄Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly

🧬New from Garg et al! 📄A #PheWAS of CNVs genotyped from genome sequencing read depth in the UK Biobank

#apaperaday After yesterday's confetti-fest Yuzu preferred playing over confetti making today. The pick is from @ajhgnews.bsky.social by Feierman et al from the Musunuru / Ahrens-Nicklas team on the implications of the FDA plausible mechanism framework. doi: 10.1016/j.ajhg.2026.03.018

Sex has a key role in disease susceptibility, particularly for autoimmune disorders. Authors of @ajhgnews.bsky.social's latest article characterized sex-biased immune differences at single-cell resolution, highlighting sexually dimorphic genes and pathways: https://bit.ly/4uJcnlV #ASHG

🧬New from Weksberg & co! 📄A next-generation #episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine

Happening tomorrow. Join Sara J Cromer, MD, MS, and David Conti, PhD, as they examine PRS and SDoH—and the key analytical and ethical considerations for modeling them jointly across varied populations. Register now to join live: 👇 https://bit.ly/4chGKtr @ajhgnews.bsky.social #ASHG

There are a lot of SCGE researchers presenting at #ASGCT2026 this week! Check out this thread to learn who is presenting and when: Tuesday May 12th: - Bill Peranteau, "Germline editing: Technical background perinatal" - Becca Ahrens-Nicklas and Kiran Musunuru are accepting the Catalyst Award (1/9)

🎉HUGE congratulations to EiC @kiranmusunuru.bsky.social & colleagues, recipients of this year's ASGCT Catalyst Award!!!

Don't miss the ASHG annual meeting abstract submission deadline, just one week away! This year's meeting will be held in Montreal, October 20–24. The deadline is earlier than in previous years, so be sure to submit and share your research: ashgmeeting.ashg.org/programs/abs... #ASHG26 #ASHG2026

EiC @kiranmusunuru.bsky.social will be at #ASGCT2026 this week--he'd love to hear about your research! #interventionalgenetics

🧬New from @lukeoconnor.bsky.social & Sella! 📄Principled measures and estimates of trait polygenicity

@ajhgnews.bsky.social latest article from @acflewis.bsky.social & co examines how the eMERGE‑IV Network balances the benefits of broad data sharing w/ protections against individual & group‑level harms: https://bit.ly/3OJ9TET #ASHG #HumanGenetics #GeneticsDiscoveries

🧬New from Yazar et al! 📄The impact of sex on the immune system explored at the single-cell level www.cell.com/ajhg/fulltex...

Our May issue is online! All the best human genetics & genomics in one place--check it out! www.cell.com/ajhg/current

Upcoming ELSI-related event from ASHG: “Incorporating Polygenic Risk Scores and Social Determinants of Health Across Populations” — May 13, 12 PM ET. Dr. Sara Cromer + Dr. David Conti will discuss PRS, SDoH, and ethics across diverse populations. elsihub.org/event/incorp... #ELSI #Genomics

Are you attending #bog26 this week? Say hi to asst editor @pwhook.bsky.social -he’d love to hear about your research!

New PaperCast Base by Base: Meta-analysis of ~948,690 samples across six biobanks reveals 58 gene-trait associations and 17 likely recessive hits including HBB→heart failure and LECT2→height. Listen https://basebybase.com/episodes/recessive-coding-associations-six-biobanks @ajhgnews.bsky.social

🧬New today! 📄Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases 🧑‍🤝‍🧑 @astheeggeggs.bsky.social @hilarycmartin.bsky.social & co

@ajhgnews.bsky.social's latest article shares new resources and approaches for genome-wide analysis of tandem repeat (TR) variation to support both the initial selection of TR loci for an analysis and the subsequent interpretation of results: https://bit.ly/4tE2LZz @ben-weisburd.bsky.social #ASHG

🧬 New from @vubush.bsky.social & co! 📄Multi-ancestry #TWAS reveals shared and population-specific genetic effects in #Alzheimer disease

🗓️ Join @prsmethods.bsky.social investigators on May 13 to discuss integrating Social Determinants of Health (SDoH) and polygenic risk scores 👀 Event information: bit.ly/4chGKtr 🔖 Publication: pubmed.ncbi.nlm.nih.gov/41785862/