Etiqueta: AmJHumGenet
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This month in The Journal
Existing best practices for pre-clinical and clinical research are not well-suited for individualized therapeutic approaches that leverage new treatment modalities, such as antisense oligonucleotides (ASOs). The increasing number of individualized ASOs…
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Identifying condition-related cell-cell communication events using supervised tensor analysis
Cell-cell communication (CCC) events coordinate physiological functions in multicellular organisms and are important for exploring biological processes and disease mechanisms. We introduce STACCato, a tensor-based regression model that assesses conditi…
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DiscoDivas: Leveraging genetic-ancestry continuum information to interpolate PRS for admixed populations
Underrepresentation of admixed populations limits equitable polygenic risk score (PRS) application. We developed DiscoDivas, a genetic-distance-assisted framework that interpolates PRSs across an ancestry continuum. By harmonizing multiple fine-tuned m…
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DiscoDivas: Leveraging genetic-ancestry continuum information to interpolate PRS for admixed populations
Underrepresentation of admixed populations limits equitable polygenic risk score (PRS) application. We developed DiscoDivas, a genetic-distance-assisted framework that interpolates PRSs across an ancestry continuum. By harmonizing multiple fine-tuned m…
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Guidance on communication and informed consent with patients and their families for experimental individualized treatments
Communication with affected individuals and their guardians about experimental treatments is challenging, more so for individualized experimental treatment due to increased uncertainty. Here, we provide best practices for communicating with and obtaini…
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Integrative genomics and single-cell CRISPRi screening dissect Alzheimer GWAS non-coding variants regulating TSPAN14
Integrating multi-omics with single-cell CRISPRi screening, this study maps Alzheimer disease genome-wide association study non-coding variants to effector genes in a cell-type-specific manner. It identifies a microglia-specific enhancer regulating TSP…
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Guidance on communication and informed consent with patients and their families for experimental individualized treatments
Communication with affected individuals and their guardians about experimental treatments is challenging, more so for individualized experimental treatment due to increased uncertainty. Here, we provide best practices for communicating with and obtaini…
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Integrative genomics and single-cell CRISPRi screening dissect Alzheimer GWAS non-coding variants regulating TSPAN14
Integrating multi-omics with single-cell CRISPRi screening, this study maps Alzheimer disease genome-wide association study non-coding variants to effector genes in a cell-type-specific manner. It identifies a microglia-specific enhancer regulating TSP…
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Polymorphic CGG repeats in gene regulation and disease
Polymorphic CGG repeats are emerging as dynamic regulators of gene expression and genome stability. This review highlights how their expansion drives diverse neurodevelopmental and neurodegenerative disorders through epigenetic silencing, RNA toxicity,…
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Polymorphic CGG repeats in gene regulation and disease
Polymorphic CGG repeats are emerging as dynamic regulators of gene expression and genome stability. This review highlights how their expansion drives diverse neurodevelopmental and neurodegenerative disorders through epigenetic silencing, RNA toxicity,…