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Disease Heterogeneity

Genotype epigenome phenotype integration reveals peripheral immune contributions to type I bipolar disorder

Lei Hou and colleagues integrated peripheral immune epigenomics, whole-genome sequencing, and clinical data to study type I bipolar disorder.

Dissecting Alzheimer's disease heterogeneity by cross-trait polygenic prediction

Led by Bill Li, this work introduces cross-trait polygenic prediction as a strategy for using phenome-wide PGS libraries in deeply phenotyped cohorts to reveal multiple polygenic …

Single-cell multiregion epigenomic rewiring in Alzheimer’s disease progression and cognitive resilience

Alzheimer’s disease (AD) is a neurodegenerative disorder characterized by progressive cognitive decline, yet its epigenetic underpinnings remain elusive.

Disease heterogeneity dissection

Statistical and computational methods for understanding interindividual differences in disease.

Human microglial state dynamics in Alzheimer's disease progression featured image

Human microglial state dynamics in Alzheimer's disease progression

Here we report 194,000 single-nucleus microglial transcriptomes and epigenomes across 443 human subjects and diverse Alzheimer's disease pathological phenotypes.

Polygenic risk modeling with latent trait-related genetic components featured image

Polygenic risk modeling with latent trait-related genetic components

Polygenic risk score (PRS) has been proposed for disease risk prediction with potential clinical relevance for some traits, but its personalized interpretation is generally …