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

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 sequencing, WES)...

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Detalles Bibliográficos
Autores principales: Schön, Ulrike, Holzer, Anna, Laner, Andreas, Kleinle, Stephanie, Scharf, Florentine, Benet-Pagès, Anna, Peschel, Oliver, Holinski-Feder, Elke, Diebold, Isabel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Technical Advance
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8011092/
https://www.ncbi.nlm.nih.gov/pubmed/33789662
http://dx.doi.org/10.1186/s12920-021-00946-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8011092/
https://www.ncbi.nlm.nih.gov/pubmed/33789662
http://dx.doi.org/10.1186/s12920-021-00946-7

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