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Signatures of Recent Positive Selection in Enhancers Across 41 Human Tissues
(G3-GENES Genomes Genetics, 2019-08)
Evolutionary changes in enhancers are widely associated with variation in human traits and diseases. However, studies comprehensively quantifying levels of selection on enhancers at multiple evolutionary periods during ...
IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells
(Molecular Genetrics & Genome Medicine, 2019-06)
BackgroundFamily screening of a 48-year-old male with recently diagnosed IgG4-related disease (IgG4-RD) revealed unanticipated elevations in plasma IgG4 in his two healthy teenaged sons.
MethodsWe performed gene sequencing, ...