Categoría: Articulos
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Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders
Complex traits differ widely in how many genetic variants shape them. Fuhrer et al. show that this is mirrored in where heritability sits in the genome, shifting from exons toward distal intergenic regions as polygenicity increases. This offers an orga…
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Sibling data reveal genetic clusters across 22 autoimmune diseases
Autoimmune diseases arise when the immune system mistakenly attacks the body’s own tissues. Researchers have long known that these diseases tend to run in families, but the genetic relationships between different autoimmune diseases have remained unclear.
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Sibling data reveal genetic clusters across 22 autoimmune diseases
Autoimmune diseases arise when the immune system mistakenly attacks the body’s own tissues. Researchers have long known that these diseases tend to run in families, but the genetic relationships between different autoimmune diseases have remained unclear.
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Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score
BackgroundHypertrophic cardiomyopathy (HCM) is a heritable trait with marked variability in expression and outcomes. Our aims were to discover new genetic loci associated with HCM and to test the effect of a new polygenic risk score (PRS) on incidence,…
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Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score
BackgroundHypertrophic cardiomyopathy (HCM) is a heritable trait with marked variability in expression and outcomes. Our aims were to discover new genetic loci associated with HCM and to test the effect of a new polygenic risk score (PRS) on incidence,…
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Mapping long-read sequences to a complete reference genome reveals uncaptured variants across the β-Globin cluster in Africans with sickle cell disease
African genomes are marked by extensive complexity in the number and distribution of variants yet remain under-represented in genetic databases and the human reference genome. This gap in representation limits the broad application of genomic medicine. Sickle cell disease (SCD)-one of the most common monogenic diseases-has its highest prevalence in Africa, and variation in disease…
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Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness
Mutation rates vary across the genome, but most variant effect predictors interpret this variation as functional constraint. Loay et al. show that this systematically biases pathogenicity predictions, while deep mutational scanning reveals genuine muta…
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Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations
Sickle cell trait (SCT) is increasingly linked to adverse health outcomes. Using phenome-wide and laboratory-wide association studies across three large US-based biobanks, Hysong et al. demonstrate that SCT influences renal, hematologic, and metabolic …
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Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations
Sickle cell trait (SCT) is increasingly linked to adverse health outcomes. Using phenome-wide and laboratory-wide association studies across three large US-based biobanks, Hysong et al. demonstrate that SCT influences renal, hematologic, and metabolic …
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Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness
Mutation rates vary across the genome, but most variant effect predictors interpret this variation as functional constraint. Loay et al. show that this systematically biases pathogenicity predictions, while deep mutational scanning reveals genuine muta…