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Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals.

Paul A LacazeRobert SebraMoeen RiazJane TillerJerico RevoteJames PhungEmily J ParkerSuzanne G OrchardJessica E LockeryRory WolfeMaya StrahlYing C WangRong ChenDaniel SiscoTodd ArnoldBryony A ThompsonDaniel D BuchananFinlay A MacraePaul A JamesWalter P AbhayaratnaTrevor J LockettPeter GibbsAndrew M TonkinMark R NelsonChristopher M ReidRobyn L WoodsAnne M MurrayIngrid WinshipJohn J McNeilEric Schadt
Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Medically actionable PVs are carried in a healthy elderly population. Our findings raise questions about the actionability of lower-penetrance genes, especially when PVs are detected in the absence of symptoms and/or family history of disease.
Keyphrases
  • middle aged
  • genome wide
  • copy number
  • physical activity
  • transcription factor