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The role of rare copy number variants (rCNVs) from multi-ancestry whole-genome sequencing data in the All of Us Research Program is examined, using an electronic health record-defined PTSD phenotype.
The observed genetic correlations are consistent with shared genetic liability between DED and chronic pain, autoimmune, and psychiatric traits, but do not establish causal direction.
These findings provide a cell-type-resolved and ancestry-aware atlas of genetically regulated expression in the human prefrontal cortex and illustrate how single-nucleus transcriptomics can sharpen gene discovery and therapeutic target prioritization for complex brain disorders.
Bipolar disorder’s genetic architecture appears hierarchical—a general liability resolving into dimensions of course and comorbidity, beyond subtypes, beyond subtypes.
These findings demonstrate that leveraging whole-genome sequencing in large-scale biobanks enables the identification of rare protein-coding variants, genes, and gene sets associated with AML.
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