Categoría: Articulos
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Atlas of immune cells explains how genetic variants cause disease
Scientists have identified thousands of genetic differences that change a person’s risk of disease, but working out how they actually affect biology—an important step toward creating new treatments—has been much more challenging. One reason is that man…
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Atlas of immune cells explains how genetic variants cause disease
Scientists have identified thousands of genetic differences that change a person’s risk of disease, but working out how they actually affect biology—an important step toward creating new treatments—has been much more challenging. One reason is that man…
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No bird soars in a calm: therapeutic germline gene editing
Global healthcare systems spend trillions of dollars treating inherited diseases. Therapeutic germline gene editing has the potential to fundamentally shift medicine from treatment to prevention by genetically correcting the disease mutation at the emb…
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Integrating clinical diagnostics with interventional genetics for neurodevelopmental disorders
Macintosh et al. describe a rapid and scalable pipeline integrating clinical diagnostics, generation of stem cells and neurons, and in vitro screening of genetic therapies for neurodevelopmental disorders. Applied to a cohort of 81 individuals, this pi…
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Effect heterogeneity reveals complex pleiotropic effects of rare coding variants
ALLSPICE tests whether rare variants within gene-burden associations have proportional effects across phenotypes. Applied to cross-phenotype burden associations, it identified ALB missense variants with heterogeneous effects on albumin and calcium leve…
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Alternative causative variants explain phenotypic severity in historical reports of NF2 missense variant carriers
Brief communicationNF2-related schwannomatosis (NF2-SWN) (NF2; MIM # 101000) is a neurogenetic condition caused by germline pathogenic variants in the NF2 gene. Affected individuals are predisposed to develop multiple tumours of the nervous system, par…
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Alternative causative variants explain phenotypic severity in historical reports of NF2 missense variant carriers
Brief communicationNF2-related schwannomatosis (NF2-SWN) (NF2; MIM # 101000) is a neurogenetic condition caused by germline pathogenic variants in the NF2 gene. Affected individuals are predisposed to develop multiple tumours of the nervous system, par…
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Clinical and genetic characteristics of Chinese patients with piebaldism accompanied by Café-au-lait macules
Background Methods Results Conclusion …
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Expanded carrier screening in China: a focused narrative review and conceptual implementation framework
European Journal of Human Genetics, Published online: 30 September 2026; doi:10.1038/s41431-026-02252-1Expanded carrier screening in China: a focused narrative review and conceptual implementation framework