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

• Main Authors: Ulrike Schön (Author), Anna Holzer (Author), Andreas Laner (Author), Stephanie Kleinle (Author), Florentine Scharf (Author), Anna Benet-Pagès (Author), Oliver Peschel (Author), Elke Holinski-Feder (Author), Isabel Diebold (Author)
• Format: Book
• Published: BMC, 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...