Categoría: The American Journal of Human Genetics
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Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia
The Xq27.1 region is a hotspot for interchromosomal insertions associated with diverse phenotypes. We describe a family with X-linked inheritance of hereditary spastic paraplegia linked to an interchromosomal insertion. Functional investigations indica…
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Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility
Analysis of age-dependent allele frequency trajectories reveals 168 candidate variants under ongoing natural selection in Han Taiwanese individuals. Many are associated with disease susceptibility and hematological traits, highlighting how contemporary…
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Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia
The Xq27.1 region is a hotspot for interchromosomal insertions associated with diverse phenotypes. We describe a family with X-linked inheritance of hereditary spastic paraplegia linked to an interchromosomal insertion. Functional investigations indica…
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Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility
Analysis of age-dependent allele frequency trajectories reveals 168 candidate variants under ongoing natural selection in Han Taiwanese individuals. Many are associated with disease susceptibility and hematological traits, highlighting how contemporary…
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Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures
Episignatures for prenatal diagnosis would be invaluable for classifying variants of uncertain significance. Using trisomy 21, we developed a proof-of-concept framework to classify prenatal samples by leveraging DNA methylation data from multiple tissu…
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Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures
Episignatures for prenatal diagnosis would be invaluable for classifying variants of uncertain significance. Using trisomy 21, we developed a proof-of-concept framework to classify prenatal samples by leveraging DNA methylation data from multiple tissu…
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Additive value of polygenic risk and family history for coronary heart disease risk stratification in two diverse US cohorts
Polygenic risk and family history each independently predict coronary heart disease. In two diverse US cohorts, Naderian et al. show that adding both to the pooled cohort equations improves risk discrimination and net benefit across White, Black, and L…
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Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes
(The American Journal of Human Genetics 113, 877–887; April 2, 2026)
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Additive value of polygenic risk and family history for coronary heart disease risk stratification in two diverse US cohorts
Polygenic risk and family history each independently predict coronary heart disease. In two diverse US cohorts, Naderian et al. show that adding both to the pooled cohort equations improves risk discrimination and net benefit across White, Black, and L…
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Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes
(The American Journal of Human Genetics 113, 877–887; April 2, 2026)