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Article

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

BMC medical genomics - 31 Mar 2021

Schön Ulrike, Holzer Anna, Laner Andreas, Kleinle Stephanie, Scharf Florentine, Benet-Pagès Anna, Peschel Oliver, Holinski-Feder Elke, Diebold Isabel

Abstract excerpt

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), which also identifies rare, previously unknown variants. The disadvantage is that a dramatic number of variants...

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Identifiers

PMID: 33789662
DOI: 10.1186/s12920-021-00946-7
PMCID: PMC8011092

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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