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Automated reanalysis of genomic data for rare disease diagnostics at scale

Title:	Automated reanalysis of genomic data for rare disease diagnostics at scale
Authors:	Welland, Matthew J.^{Aff1, Aff2}; Ahlquist, K. D.^{Aff3, Aff4}; De Fazio, Paul^Aff5; Austin-Tse, Christina^{Aff3, Aff4}; Pais, Lynn^Aff4; Wedd, Laura^{Aff1, Aff2}; Bryen, Samantha^{Aff1, Aff2}; Rius, Rocio^{Aff1, Aff2}; Franklin, Michael^{Aff1, Aff2}; Morrison, Caitlin^{Aff1, Aff2}; Hall, Giles^Aff6; Gauthier, Laura^{Aff3, Aff6}; Bloemendal, Alex^{Aff4, Aff6}; Francis, David I.^Aff5; Mallett, Andrew J.^{Aff7, Aff8, Aff9}; Mallawaarachchi, Amali^{Aff10, Aff11}; Lockhart, Paul J.^{Aff12, Aff13}; Leventer, Richard^{Aff12, Aff13, Aff14}; Scheffer, Ingrid E.^{Aff13, Aff14, Aff15}; Howell, Katherine B.^{Aff12, Aff13, Aff14}; Kassahn, Karin S.^{Aff16, Aff17}; Scott, Hamish S.^{Aff16, Aff17, Aff18, Aff19}; McGaughran, Julie^{Aff20, Aff21}; Christodoulou, John^{Aff12, Aff13}; Thorburn, David R.^{Aff5, Aff12, Aff13}; Thompson, Bryony A.^Aff22; Patel, Chirag V.^Aff20; Smith, Greg^Aff23; O’Donnell-Luria, Anne^{Aff3, Aff4, Aff24}; Sadedin, Simon^{Aff5, Aff12}; Rehm, Heidi L.^{Aff3, Aff4}; Lunke, Sebastian^{Aff5, Aff12, Aff13}; Wander, Jeremiah^Aff23; Samocha, Kaitlin E.^{Aff3, Aff4}; Simons, Cas^{Aff1, Aff2}; MacArthur, Daniel G.^{Aff1, Aff2}; Stark, Zornitza^{Aff5, Aff13, Aff25, IDs41591026044775_cor1}
Source:	Nature Medicine. :1-9
Database:	Springer Nature Journals