Article

Dealing With Unspecific Clinical Phenotypes in Molecular Autopsy - HPO-Driven Whole Exome Sequencing Analysis Versus Gene Panel Testing

2020-12-10

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> 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), which also identifies rare, previously unknown variants. The disadvantage...

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Literature Corpus work: b5b482ff-01a9-5eec-a773-3a0d47323a6a
DOI: 10.21203/rs.3.rs-122014/v1

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