HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death

• Autors principals: Ulrike Schön (Autor), Anna Holzer (Autor), Andreas Laner (Autor), Stephanie Kleinle (Autor), Florentine Scharf (Autor), Anna Benet-Pagès (Autor), Oliver Peschel (Autor), Elke Holinski-Feder (Autor), Isabel Diebold (Autor)
• Format: Llibre
• Publicat: BMC, 2021-03-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Abstract Background Molecular autopsy represents an efficient tool to save the diagnosis in up to one-third of sudden unexplained death (SUD). A defined gene panel is usually used for the examination. Alternatively, it is possible to carry out a comprehensive genetic assessment (whole exome sequenci...