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Article
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis
In this study, we leveraged the combined evidence of rare coding variants and common alleles to identify therapeutic targets for osteoporosis. We undertook a large-scale multiancestry exome-wide association st...
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Article
Author Correction: Common and rare variant associations with clonal haematopoiesis phenotypes
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Article
Common and rare variant associations with clonal haematopoiesis phenotypes
Clonal haematopoiesis involves the expansion of certain blood cell lineages and has been associated with ageing and adverse health outcomes1–5. Here we use exome sequence data on 628,388 individuals to identify 4...
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Article
Open AccessMultiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes
Body fat distribution is a major, heritable risk factor for cardiometabolic disease, independent of overall adiposity. Using exome-sequencing in 618,375 individuals (including 160,058 non-Europeans) from the U...
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Article
Open AccessSmoking shifts human small airway epithelium club cells toward a lesser differentiated population
The club cell, a small airway epithelial (SAE) cell, plays a central role in human lung host defense. We hypothesized that subpopulations of club cells with distinct functions may exist. The SAE of healthy non...
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Article
Open AccessCell-specific expression of lung disease risk-related genes in the human small airway epithelium
The human small airway epithelium (SAE) plays a central role in the early events in the pathogenesis of most inherited and acquired lung disorders. Little is known about the molecular phenotypes of the specifi...
