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

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

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...

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Bibliographic Details
Main Authors: Ulrike Schön, Anna Holzer, Andreas Laner, Stephanie Kleinle, Florentine Scharf, Anna Benet-Pagès, Oliver Peschel, Elke Holinski-Feder, Isabel Diebold
Format: Article
Language:English
Published: BMC 2021-03-01
Series:BMC Medical Genomics
Subjects:
Sudden unexplained death
Molecular autopsy
HPO
Variant interpretation
Whole exome sequencing
Online Access:https://doi.org/10.1186/s12920-021-00946-7

Internet

https://doi.org/10.1186/s12920-021-00946-7

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