{"doi":"10.1056/nejmoa2117872","title":"Germline Mutations in <i>CIDEB</i> and Protection against Liver Disease","abstract":"BACKGROUND: Exome sequencing in hundreds of thousands of persons may enable the identification of rare protein-coding genetic variants associated with protection from human diseases like liver cirrhosis, providing a strategy for the discovery of new therapeutic targets. METHODS: We performed a multistage exome sequencing and genetic association analysis to identify genes in which rare protein-coding variants were associated with liver phenotypes. We conducted in vitro experiments to further characterize associations. RESULTS: small interfering RNA knockdown prevented the buildup of large lipid droplets. CONCLUSIONS: conferred substantial protection from liver disease. 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