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Nature genetics
Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.
Systematic decoding of cis gene regulation defines context-dependent control of the multi-gene costimulatory receptor locus in human T cells.
Functional characterization of Alzheimer's disease genetic variants in microglia.
Genome-wide prediction of disease variant effects with a deep protein language model.
Landscape of stimulation-responsive chromatin across diverse human immune cells.
Ultrarare variants drive substantial cis heritability of human gene expression.
Genetic determinants of co-accessible chromatin regions in activated T cells across humans.
Covariate selection for association screening in multiphenotype genetic studies.
DNA hypomethylation within specific transposable element families associates with tissue-specific enhancer landscape.
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.