Etiqueta: AmJHumGenet
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Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease
Polygenic scores stratify disease risk but often miss individual variation. We show that individuals whose traits deviate from polygenic expectation are enriched for rare, damaging variants. This misalignment framework supports a liability threshold mo…
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Integrating social determinants of health and genetic risk in disease risk models
Biji et al. present a scalable approach to quantify social determinants of health and integrate them into disease risk prediction models. By applying multiple correspondence analysis to All of Us biobank surveys, they generate embeddings that consisten…
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Integrating social determinants of health and genetic risk in disease risk models
Biji et al. present a scalable approach to quantify social determinants of health and integrate them into disease risk prediction models. By applying multiple correspondence analysis to All of Us biobank surveys, they generate embeddings that consisten…
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Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease
Polygenic scores stratify disease risk but often miss individual variation. We show that individuals whose traits deviate from polygenic expectation are enriched for rare, damaging variants. This misalignment framework supports a liability threshold mo…
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De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms
De novo variants in LDB1 were linked to distinct neurodevelopmental disorders (NDDs). N-terminal missense and truncating variants lead to loss of function and variable NDDs without brain anomalies, and C-terminal missense or truncating variants act thr…
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De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms
De novo variants in LDB1 were linked to distinct neurodevelopmental disorders (NDDs). N-terminal missense and truncating variants lead to loss of function and variable NDDs without brain anomalies, and C-terminal missense or truncating variants act thr…
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Complete chromosome 21 centromere sequencing of families with Down syndrome
This article describes the genetic and epigenetic landscapes of chromosome 21 centromeres in families with trisomy 21 and the general population. It reveals an extreme size asymmetry of the two maternal chromosome 21 centromeres in a subset of families…
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Complete chromosome 21 centromere sequencing of families with Down syndrome
This article describes the genetic and epigenetic landscapes of chromosome 21 centromeres in families with trisomy 21 and the general population. It reveals an extreme size asymmetry of the two maternal chromosome 21 centromeres in a subset of families…
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Genome-wide analysis implicates inner ear development in Ménière disease
A genome-wide association study of Ménière disease across five biobanks identifies genome-wide significant associations at EYA4, EYA1, and CYP26A1. These genes regulate inner ear development and retinoic acid signaling, establishing a genetic framework…
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Genome-wide analysis implicates inner ear development in Ménière disease
A genome-wide association study of Ménière disease across five biobanks identifies genome-wide significant associations at EYA4, EYA1, and CYP26A1. These genes regulate inner ear development and retinoic acid signaling, establishing a genetic framework…