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Rare copy-number variants as modulators of common disease susceptibility.

Chiara AuwerxMaarja LepametsMarie C SadlerNicolò TesioSven E OjaveeCharlie J ClarkReedik Mäginull nullAlexandre ReymondZoltán Kutalik
Published in: Genome medicine (2024)
Our results shed light on the prominent role of rare CNVs in determining common disease susceptibility within the general population and provide actionable insights for anticipating later-onset comorbidities in carriers of recurrent CNVs.
Keyphrases
  • copy number
  • mitochondrial dna
  • genome wide
  • dna methylation
  • small molecule
  • gene expression