P647: Improving rare disease diagnosis: Performance of an automated pipeline for genomic reanalysis

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425010556
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