Human Genetics and Genomics Advances
@HGGAdvances
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RT @GeneticsSociety: .@HGGAdvances sat with Jayati Sharma, in the latest "Inside HGGA" to discuss her paper, “Genetic ancestry influences g….
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RT @GeneticsSociety: The latest @HGGAdvances article from @yekaixiong & colleagues reports the results of a genome-wide association study t….
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RT @CellPressNews: In celebration of 5 years of publication of @HGGAdvances, we reflect with thanks on the development of the journal and c….
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RT @GeneticsSociety: .@HGGAdvances latest study evaluates the added diagnostic yield of whole genome sequencing, demonstrating how it enabl….
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RT @CellPressNews: HGG Advances welcomes bold, peer-reviewed research that drives progress across all areas of human genetics and genomics.….
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📣ICYMI from Sun et al. 📄Genome-wide association studies and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating polyunsaturated, monounsaturated, and saturated #fattyacids.👉
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RT @GeneticsSociety: 🚨Applications are open! Through August 25, apply to lead and shape the future of @HGGAdvances as its next Editor-in-Ch….
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📣New research from @GREGoR_research!.📄 Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti.👉
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📣New from Ng et al!.📄Identification of technically challenging variants – whole genome sequencing improves diagnostic yield in patients with high clinical suspicion of rare diseases.👉
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RT @CellPressNews: Award-winning @HGGAdvances author Philip M. Boone, MD, PhD, talks about their positive experience of publishing in HGG A….
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RT @GeneticsSociety: .@HGGAdvances' latest paper examines the impact of rare variants and sex on gene expression across the X-chromosome an….
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📣New from Smol et al!.📄MED13L Pathogenic Missense Variants Impair Protein Stability and Interaction, Underlying Diverse Clinical Outcomes.👉
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📣Online now from Onwuka et al!.📄The Impact of Genetic Ancestry on Survival Outcomes in Pediatric Rhabdomyosarcoma: A Report from the Children’s Oncology Group.👉
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RT @amandaperl: Today’s the last day! Submit your abstract for the @GeneticsSociety annual meeting in Boston. It’s a can’t miss event. @AJH….
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RT @GeneticsSociety: The latest @HGGAdvances paper describes a rare disease Open Science Data Challenge, utilizing data collected systemati….
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📣New from @mathiesoniain & co!.📄Meta-analysis of uveal #melanoma #GWAS identifies novel risk loci and population effect size heterogeneity.👉
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📣New from Yu et al!.📄Expanding implementation of pediatric whole genome sequencing: insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis.👉
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📣New from Pan et al. 📄Clinical features and molecular mechanisms of RP1L1 variants causing occult macular dystrophy.👉
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📣Online now from @raungar et al!.📄Transcriptomic signatures of rare variant impacts across sex and the X-chromosome.👉
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📣New Commentary!.📄Breaking Barriers in Rare Disease Research: The RARE-X Open Science Data Challenge as a Model for Collaborative Innovation and Community Partnership.👉
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