AJHG

@AJHGNews

The American Journal of Human Genetics

Joined December 2011

482Following

10KFollowers

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AJHG Retweeted

Anushree Ray@AnushreeRay4 · Jul 7

🚨 My first first-author PhD paper is out in @AJHGNews! We developed a single-cell TWAS pipeline that pinpoints cell-specific genetic drivers of cardiovascular disease—more precise than bulk-based methods 🧬 🔗 doi.org/10.1016/j.ajhg… #Genomics #PhDlife #scRNAseq #TWAS

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AJHG@AJHGNews · Jul 22

📢Online now from @egatkinson & co! 📄Implementing a training resource for large-scale genomic data analysis in the All of Us Researcher Workbench 🧑‍💻 cell.com/ajhg/abstract/…

AJHGNews's tweet card. Baker et al. present a cloud-based training program using the All of Us Researcher Workbench to teach large-scale genomic data analysis. Early-career researchers gained hands-on experience in GWASs,...

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Alvaro Hermida@Info_Rares · Jul 21

🧬 Exome sequencing in critically ill adults (18–40) yields a 24% Dx rate — but reveals racial disparities in access. Equity in genomics is essential. #Genomics #HealthEquity #PrecisionMedicine @AJHGNews @CellPressNews cell.com/ajhg/fulltext/…

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flora peyvandi@flora_peyvandi · Jul 20

Extracting and calibrating evidence of variant pathogenicity from population #biobank data: 12.4% of rare VUSs in LDLR seen meet diagnostic criteria to be classified as likely pathogenic, demonstrating its potential to scale the #reclassification of VUSs. cell.com/ajhg/abstract/…

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AJHG@AJHGNews · Jul 21

📣New from Sutoh et al! 📄Genetic predisposition for immunoglobulin E production explains atopic risk in children: Tohoku Medical Megabank cohort study cell.com/ajhg/abstract/…

AJHGNews's tweet card. We report that genetic predisposition influencing serum immunoglobulin E (sIgE) levels is associated with the development of allergies in children, including food allergy and atopic dermatitis....

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AJHG@AJHGNews · Jul 21

📣New from Tang & @CharlestonCWKC! 📄A genealogy-based approach for revealing ancestry-specific structures in admixed populations cell.com/ajhg/abstract/…

AJHGNews's tweet card. We present a method that combines inferred gene genealogical trees with local ancestry calls to estimate ancestry-specific expected genetic relationship matrix (as-eGRM) for admixed populations....

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AJHG@AJHGNews · Jul 21

📣New Perspective from Kym Boycott & co! 📄The evolution of health data ecosystems: An international survey ⚕️ cell.com/ajhg/abstract/…

AJHGNews's tweet card. We report on an international survey of health data ecosystems (HDEs) based on live interviews with project leaders in a dozen countries. The remarkable diversity of HDEs works against collective...

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ASHG@GeneticsSociety · Jul 17

The HLA region is key to human health, but is often excluded in large-scale GWAS. Informing future studies on its influence, @AJHGNews' latest article reports HLA haplotype-based associations across thousands of diseases: bit.ly/4lrJiXT #ASHG @jkpritch

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Veera Rajagopal @doctorveera · Jul 15

Most studies on clinical utility of exome sequencing in intensive care focussed on pediatric patients. In a new study in AJHG, the authors assessed diagnostic value of exome sequencing in critically ill adult patients and found a surprising 24% diagnostic yield, many with…

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AJHG@AJHGNews · Jul 14

📣New from Chang et al! 📄A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia cell.com/ajhg/fulltext/…

AJHGNews's tweet card. We examined variants of CASR associated with autosomal-dominant hypocalcemia type 1 (ADH1) and created a score to identify 9 additional variants. The symptom burden of ADH1 was ≥2-fold higher than...

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Theodore G. Drivas 🏳️‍🌈@TDrivas · Jul 11

Thrilled to share that our latest study on genetic testing in critically ill adults at @PennMedicine is now published in The American Journal of Human Genetics (@AJHGNews) -- and was featured in @ScienceNews! 🧬🏥

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ASHG@GeneticsSociety · Jul 10

Data sharing is crucial to advancing health research. The authors of @AJHGNews' latest article provide policy recommendations to facilitate future use & sharing of heterogeneous data sources w/ the goal of improving polygenic risk prediction: bit.ly/44ye7Ty @PRSdiversity

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AJHG@AJHGNews · Jul 10

📣New today! 📄Haplotype analysis reveals pleiotropic disease associations in the HLA region 🧑‍🤝‍🧑 @jkpritch @FinnGen_FI & colleagues cell.com/ajhg/abstract/…

AJHGNews's tweet card. The HLA region plays an important role in human health but is often excluded in large-scale GWASs. We performed haplotype-based associations from genotype data to investigate pleiotropy across...

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AJHG@AJHGNews · Jul 9

📣Online now! 📄Extracting and calibrating evidence of variant pathogenicity from population biobank data 🧑‍🤝‍🧑 @ccassa & colleagues cell.com/ajhg/abstract/…

AJHGNews's tweet card. This study leverages biobank data to identify rare coding variants that increase risk across 41 genes linked to 18 clinically actionable conditions. By calibrating this population enrichment within...

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AJHG@AJHGNews · Jul 8

Happy to have led this manuscript with Sarah Nelson and the PRIMED Data Sharing WG! We noted challenges concerning data sharing and derived data use from multiple sources while explaining how PRIMED approached these challenges with suggestions for future consortia.

AAJHG@AJHGNews · Jul 7

📣New from @prsdiversity 📄Data sharing in the PRIMED Consortium: Design, implementation, and recommendations for future policymaking cell.com/ajhg/abstract/…

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AJHG@AJHGNews · Jul 8

📣New #cancer research! 📄Extremely early genomic events and temporal order of esophageal squamous cell carcinogenesis: Longitudinal self-comparison of progressors and non-progressors cell.com/ajhg/abstract/…

AJHGNews's tweet card. By longitudinal comparison of genomic alterations between the progressors and non-progressors, our data suggest that TP53 two-hit events, absence of NOTCH1 mutation, and presence of CDKN2A mutation...

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Iftikhar J. Kullo@iftikhar_kullo · Jul 8

Data sharing in the PRIMED Consortium: Implementation & recommendations for future policy A perspective in Am J Hum Gen led by @Johanna_L_Smith on challenges in data sharing in the context of legacy datasets, evolving policies, consortium science tinyurl.com/2w9mkkpm

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AJHG@AJHGNews · Jul 8

📣Online now! 📄Leveraging local ancestry and cross-ancestry genetic architecture to improve genetic prediction of complex traits in admixed populations 🧑‍🤝‍🧑 @geyuzhou.bsky.social & colleagues cell.com/ajhg/abstract/…

AJHGNews's tweet card. A statistical method, SDPR_admix, was developed to improve the performance of polygenic risk score (PRS) in admixed populations by incorporating information from local ancestry and cross-ancestry...

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AJHG@AJHGNews · Jul 7

📣New from @prsdiversity 📄Data sharing in the PRIMED Consortium: Design, implementation, and recommendations for future policymaking cell.com/ajhg/abstract/…

AJHGNews's tweet card. As data sharing is crucial for the advancement of health research, the PRIMED Consortium developed various mechanisms to share diverse datasets that can accommodate different data sources, types, and...

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ASHG@GeneticsSociety · Jul 3

.@AJHGNews sat with @ArboledaVal in the latest "Inside AJHG" to discuss her recently published paper, “Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids.”➡️ ashg.org/ajhg/inside-aj… #ASHG #GeneticsDiscoveries #HumanGenetics

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