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Sudden Cardiac Death: The Role of Molecular Autopsy with Next-Generation Sequencing

2025-02-13Journal article Open access
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dc.contributor.authorSantos, Agostinho
dc.contributor.authorAmorim, António
dc.contributor.authorCainé, Laura
dc.contributor.authorFadoni, Jennifer
dc.date.accessioned2025-03-31T11:44:09Z
dc.date.available2025-03-31T11:44:09Z
dc.date.issued2025-02-13
dc.description.abstractMolecular autopsy is a term employed to describe the investigation of the cause of death through the analysis of genetic information using biological samples collected post-mortem. Its utility becomes evident in situations where conventional medico-legal autopsy methods are not able to identify the cause of death, i.e., in sudden cardiac death (SCD) cases in young individuals, where deaths are commonly due to genetic cardiac conditions, such as cardiomyopathies and channelopathies. The recent advancement in high-throughput sequencing techniques, such as next-generation sequencing (NGS), has allowed the investigation of a high number of genomic regions in a more cost-effective and faster approach. Unlike traditional sequencing methods, which can only sequence one DNA fragment at a time, NGS can sequence millions of short polynucleotide fragments simultaneously. This parallel approach reduces both the time and cost required to generate large-scale genomic data, making it a useful tool for applications ranging from basic research to molecular autopsy. In the forensic context, by enabling the examination of multiple genes or entire exomes and genomes, NGS enhances the accuracy and depth of genetic investigations, contributing to a better understanding of complex inherited diseases. However, challenges remain, such as the interpretation of variants of unknown significance (VUS), the need for standardized protocols, and the high demand for specialized bioinformatics expertise. Despite these challenges, NGS continues to offer significant promise for enhancing the precision of molecular autopsies. The goal of this review is to assess the effectiveness of contemporary advancements in molecular autopsy methodologies when applied to cases of SCD in young individuals and to present an overview of the steps involved in the analysis of NGS data and the interpretation of genetic variants.por
dc.description.sponsorshipAPC com financiamento do INMLCF, IP
dc.identifier.citationFadoni, J., Santos, A., Amorim, A., & Cainé, L. (2025). Sudden Cardiac Death: The Role of Molecular Autopsy with Next-Generation Sequencing. Diagnostics, 15(4), 460. https://doi.org/10.3390/diagnostics15040460
dc.identifier.doi10.3390/diagnostics15040460
dc.identifier.issn2075-4418
dc.identifier.urihttp://hdl.handle.net/10400.26/57504
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI AG
dc.relation.hasversionhttps://www.mdpi.com/2075-4418/15/4/460
dc.relation.ispartofDiagnostics
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectsudden cardiac death
dc.subjectmolecular autopsy
dc.subjectarrhythmias
dc.subjectcardiomyopathies
dc.subjectnext-generation sequencing
dc.subjectNGS
dc.titleSudden Cardiac Death: The Role of Molecular Autopsy with Next-Generation Sequencing
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue4
oaire.citation.titleDiagnostics
oaire.citation.volume15
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameSantos
person.familyNameAmorim
person.familyNameCainé
person.familyNameFadoni
person.givenNameAgostinho
person.givenNameAntónio
person.givenNameLaura
person.givenNameJennifer
person.identifierAAR-9087-2020
person.identifier.ciencia-id5311-A774-AC55
person.identifier.ciencia-id021A-33DD-869D
person.identifier.ciencia-id7715-6D9A-CB35
person.identifier.orcid0000-0002-1396-4234
person.identifier.orcid0000-0002-7506-4426
person.identifier.orcid0000-0002-6542-4256
person.identifier.orcid0000-0002-7593-1059
person.identifier.ridA-4414-2013
person.identifier.scopus-author-id35253426400
person.identifier.scopus-author-id2311978
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relation.isAuthorOfPublication.latestForDiscovery61299072-a091-458c-bb8f-8bbc062ed145

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