Categoría: Articulos
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The effect of unique molecular identifier family size using tumor-informed circulating tumor-DNA analysis in childhood cancers
Analysis of circulating tumor-DNA (ctDNA) provides a molecular assessment that can complement routine imaging in childhood cancer management. Detailed monitoring of ctDNA levels may provide information on treatment efficacy and resistance, minimal resi…
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Long-read sequencing resolves complex CYP21A2 variants and identifies 2+0 carriers in 21-hydroxylase deficiency
The complex CYP21A2 variants arising from high homology with its pseudogene CYP21A1P challenge the diagnosis of 21-hydroxylase deficiency (21-OHD). This study systematically evaluated long-read sequencing (LRS) for identifying complex structural varian…
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Genetic mapping reveals complex traits draw more heritability from intergenic DNA
Schizophrenia, height, cholesterol. Each has its own genetic signature. That signature is made up of genetic variants: small differences in the DNA sequence that make one person’s genome differ from another’s. Some traits, such as the amount of cholest…
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Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults
Age-related hearing loss can arise through different biological mechanisms. By integrating human genome-wide association data with single-cell gene expression profiles, we show that genes associated with metabolic and sensory hearing loss exhibit disti…
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A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity
Virolainen et al. combine human genetics, functional genomics, and mouse models to show that a common lupus-risk IRF7 haplotype enhances IRF7 nuclear localization, DNA binding, and type I interferon production. The haplotype improves antiviral defense …
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CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes
CanVar-UK is a data sharing and variant interpretation platform for cancer susceptibility genes (CSGs) housing in silico, functional, case/control frequency, and multifactorial data for over 1.1 million variants in 116 CSGs. International diagnostic us…
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Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults
Age-related hearing loss can arise through different biological mechanisms. By integrating human genome-wide association data with single-cell gene expression profiles, we show that genes associated with metabolic and sensory hearing loss exhibit disti…
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A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity
Virolainen et al. combine human genetics, functional genomics, and mouse models to show that a common lupus-risk IRF7 haplotype enhances IRF7 nuclear localization, DNA binding, and type I interferon production. The haplotype improves antiviral defense …
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CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes
CanVar-UK is a data sharing and variant interpretation platform for cancer susceptibility genes (CSGs) housing in silico, functional, case/control frequency, and multifactorial data for over 1.1 million variants in 116 CSGs. International diagnostic us…
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Blood and gene tests predict Alzheimer’s symptoms three to six years ahead
Columbia University researchers have identified a way to help predict when people at high risk of developing Alzheimer’s are likely to develop their first symptoms, a finding that could help physicians decide when to prescribe preventive treatments cur…