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P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis by Christina Tse, Kaileigh Ahlquist, Matthew Welland, Paul de Fazio, Cas Simons, Lynn Pais, Giles Hall, Jeremiah Wander, Greg Smith, Laura Gauthier, Anne O'Donnell-Luria, Daniel MacArthur, Zornitza Stark, Heidi Rehm, Kaitlin Samocha
Published 2025-01-01Get full text
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Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol by Amali Mallawaarachchi, Hugh McCarthy, Thomas A. Forbes, Kushani Jayasinghe, Chirag Patel, Stephen I. Alexander, Tiffany Boughtwood, Jeffrey Braithwaite, Aron Chakera, Sam Crafter, Ira W. Deveson, Randall Faull, Trudie Harris, Lilian Johnstone, Matthew Jose, Anna Leaver, Melissa H. Little, Daniel MacArthur, Tessa Mattiske, Christine Mincham, Kathy Nicholls, Catherine Quinlan, Michael C. J. Quinn, Gopala Rangan, Jessica Ryan, Cas Simons, Ian Smyth, Madhivanan Sundaram, Peter Trnka, Laura Wedd, Erik Biros, Zornitza Stark, Andrew Mallett
Published 2025-02-01Get full text
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