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

• Автори: Ulrike Schön (Автор), Anna Holzer (Автор), Andreas Laner (Автор), Stephanie Kleinle (Автор), Florentine Scharf (Автор), Anna Benet-Pagès (Автор), Oliver Peschel (Автор), Elke Holinski-Feder (Автор), Isabel Diebold (Автор)
• Формат: Книга
• Опубліковано: BMC, 2021-03-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: 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...