Categoría: Articulos
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Inherited predisposition to increased systemic inflammation predicts a broad class of disease phenotypes
Chronic, low-grade systemic inflammation is a polygenic trait captured with the INFLA-score, a composite of C-reactive protein, platelet count, leukocyte count, and granulocyte-to-lymphocyte ratio. We derived a polygenic risk score from the INFLA-score (iPRS) in a multi-ancestry population from the UK Biobank (n = 421,368), then evaluated and used it in a phenome-wide association study…
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Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features
Genes associated with rare neurodevelopmental disorders are still being identified. The authors identify ZNF536 as a developmental disease-associated gene, describing a cohort of affected individuals with variation in this gene who have developmental d…
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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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Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features
Genes associated with rare neurodevelopmental disorders are still being identified. The authors identify ZNF536 as a developmental disease-associated gene, describing a cohort of affected individuals with variation in this gene who have developmental d…