Paul W. Hook

new collaborative work incl. our group in the @AJHGNews on BLOC1S1 related leukodystrophy cell.com/ajhg/abstract/…

Authors of @AJHGNews' latest article expand the phenotypic spectrum of RNU4ATAC-associated disorders by showing that bi-allelic variants in the minor spliceosome snRNAs RNU6ATAC & RNU4ATAC cause early-onset autoimmune diabetes with immune dysregulation: bit.ly/40MZmLd

Then, from Lawson & co 📰Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study cell.com/ajhg/abstract/…

First, from Limdi et al 📰The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments cell.com/ajhg/fulltext/…

🧬🦟New from Haffener et al! 📄Adaptive admixture at ACKR1, the Duffy blood group locus, may have shaped Plasmodium vivax prevalence in Oman cell.com/ajhg/fulltext/…

🧬New today! 📄Genome-wide detection of human 5′ UTR variants that impact protein translation 🧑‍🤝‍🧑 @casanova_lab @peng @zhangpeng1202 & co cell.com/ajhg/fulltext/…

Misconceptions about human genetic differences fuel genetic essentialism—but educational intervention can change that. Join @robbeewedow during the upcoming April 8 Journal Club Webinar as he shares how & breaks down his @HGGAdvances paper. Register now: learning.ashg.org/products/genet…

🚨🚨TWO new eMERGE papers today that explore genome-informed risk assessments! #PRS #genomics #EHR

🧬New from @itskatelawrence et al! 📄 Focus on single-gene effects limits discovery and interpretation of complex-trait-associated variants cell.com/ajhg/fulltext/…

🧬 New from Johnson et al! 📄Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes cell.com/ajhg/fulltext/…

.@HGGAdvances latest study identifies bi-allelic variants in two AP-5 complex genes, AP5Z1 and AP5B1, in patients with macular degeneration, highlighting the importance of membrane trafficking in maintaining retinal health: cell.com/hgg-advances/f… #ASHG #HumanGenetics

To quantify bias in health system-linked biobanks, authors @apimplaskar, @loldeloo, and co. of @AJHGNews' latest article highlight possible participation & recruitment biases and introduce analyses that can identify sources of confounding: bit.ly/4cSaNsm #ASHG

🧬 New from @joelhirschhorn & co! 📄Genetics of skeletal proportions across two different populations cell.com/ajhg/fulltext/…

📣 Trainees: Applications for the ACGT Program are open! • Obtain a certificate in human genetics and genomics advocacy • Get real‑world policy experience and build advocacy skills • Grow your ASHG network & visibility Apply: ashg.org/advocacy/advoc… ⏳ April 30 #ASHG

🧬 New from Wilson & colleagues! 📄Best practices for improving alignment and variant calling on human sex chromosomes cell.com/ajhg/abstract/…

.@AJHGNews sat with Kiran Kumar in the latest "Inside AJHG" to discuss her recently published paper, “MetaGLIMPSE: Meta-imputation of low-coverage sequencing data for modern and ancient genomes.”➡️ ashg.org/publications-n… #ASHG #GeneticsDiscoveries #HumanGenetics

The authors of the @AJHGNews latest article explore the opportunities and challenges of harmonizing data across cohorts and biobanks, and outline key ethical considerations researchers must navigate when conducting or reporting this work: cell.com/ajhg/fulltext/… #ASHG

🧬New from Larsen et al! 📄Selective chr21 homolog silencing reveals polymorphisms influence the epigenetic silencing and functional dosage of RWDD2B cell.com/ajhg/fulltext/…

The #ACMGMtg26 exhibit hall is open—and it comes at a meaningful time as we recognize #MedicalGeneticsAwarenessWeek & the professionals advancing the field. Visit us at Booth 1929 to learn how #ASHGmembership supports your career and get updates on upcoming programs. #ASHG

.@HGGAdvances sat with Steven Gazal, PhD, in the latest "Inside HGG Advances" to discuss his recently published paper, “Evaluating genetic ancestry inference from single-cell transcriptomic datasets.”➡️ ashg.org/hgga/inside-hg… #ASHG #GeneticsDiscoveries