Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.

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Title: Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
Authors: De La Vega, Francisco M.1,2,3 (AUTHOR), Chowdhury, Shimul4 (AUTHOR), Moore, Barry5 (AUTHOR), Frise, Erwin1 (AUTHOR), McCarthy, Jeanette1 (AUTHOR), Hernandez, Edgar Javier5 (AUTHOR), Wong, Terence4 (AUTHOR), James, Kiely4 (AUTHOR), Guidugli, Lucia4 (AUTHOR), Agrawal, Pankaj B.6,7 (AUTHOR), Genetti, Casie A.6 (AUTHOR), Brownstein, Catherine A.6 (AUTHOR), Beggs, Alan H.6 (AUTHOR), Löscher, Britt-Sabina8 (AUTHOR), Franke, Andre8 (AUTHOR), Boone, Braden9 (AUTHOR), Levy, Shawn E.9 (AUTHOR), Õunap, Katrin10,11 (AUTHOR), Pajusalu, Sander10,11 (AUTHOR), Huentelman, Matt12 (AUTHOR)
Source: Genome Medicine. 10/19/2021, Vol. 13 Issue 1, p1-19. 19p.
Database: Academic Search Ultimate
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  Data: <searchLink fieldCode="JN" term="%22Genome+Medicine%22">Genome Medicine</searchLink>. 10/19/2021, Vol. 13 Issue 1, p1-19. 19p.
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