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Genetic identification of human skeletal remains in forensic context: a review

dc.contributor.authorCainé, Laura
dc.contributor.authorHenriques, Madalena
dc.contributor.authorRohovska, Adelina
dc.contributor.authorSousa, Bárbara
dc.contributor.authorAfonso Costa, Heloísa
dc.contributor.authorCorreia Dias, Maria Helena
dc.contributor.authorRodrigues, Joana
dc.contributor.authorFranco, Magda
dc.contributor.authorMukan, Olena
dc.contributor.authorNascimento, Rui
dc.contributor.authorVânia Mofreita
dc.contributor.authorAmorim, António
dc.date.accessioned2026-04-22T15:20:07Z
dc.date.available2026-04-22T15:20:07Z
dc.date.issued2026-04-21
dc.description.abstract<jats:p>Background/Objectives: Genetic identification of human skeletal remains plays a pivotal role in forensic investigations when other traditional or primary methods are not appropriate. Decomposition, storage and environmental conditions often leave the skeletal structure as the only basis for identification. This review synthesizes current methodologies and technological advances in damaged DNA extraction and analysis, emphasizing the forensic relevance of skeletal remains for genetic identification. Methods: A comprehensive literature analysis highlights the basis of genetic identification; sampling that considers intrinsic and extrinsic factors influencing the DNA yield and its quality; pre-treatment methods; extraction protocols that are suitable for its sensitivity; genetic marker panels that allow for human identification; and statistical evaluation and analysis of the results. The last chapter demonstrates the real-world impact of genetic identification on historical cases, underscoring its broader significance in legal, humanitarian, and socio-historical contexts, supporting a critical evaluation of best practices, methodological robustness, and ethical considerations within the field. Results: Teeth, femur and the petrous portion of temporal bone are the main samples used for genetic analysis. STR profiling and mitochondrial DNA are the gold standard markers for skeletal human identification. Minimally destructive protocols that enhance a high DNA yield are chosen, with silica-based methods being highlighted in the extraction protocols. Next-Generation Sequencing techniques have also improved analytical outcomes, by enabling high-throughput data generation, increased coverage depth, nucleotide-level sequence data, and high-level multiplexing of genetic targets. Conclusions: This review provides a comprehensive framework for researchers and practitioners seeking to optimize genetic identification workflows in forensic sciences and bioarcheology. These methodological advances have significantly increased identification success rates, especially in cases involving degraded or limited skeletal remains. Reviews such as this one help us to identify methodological gaps, ethical concerns, and future research directions, thereby establishing best practices when working with highly degraded skeletal material, supporting more reliable, standardized, and legally defensible applications of genetic identification in forensic, archeological, and humanitarian contexts.</jats:p>eng
dc.identifier.citationCainé, L., Henriques, M., Rohovska, A., Sousa, B., Afonso Costa, H., Correia Dias, H., Rodrigues, J., Franco, M., Mukan, O., Nascimento, R., Mofreita, V., & Amorim, A. (2026). Genetic Identification of Human Skeletal Remains in Forensic Context: A Review. Genes, 17(4), 492. https://doi.org/10.3390/genes17040492
dc.identifier.doi10.3390/genes17040492
dc.identifier.issn2073-4425
dc.identifier.urihttp://hdl.handle.net/10400.26/62831
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI AG
dc.relation.ispartofGenes
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectforensics
dc.subjectidentification
dc.subjecthuman remains
dc.subjectbones
dc.subjectteeth
dc.subjectmtDNA
dc.subjectSTR
dc.subjectSNP
dc.titleGenetic identification of human skeletal remains in forensic context: a revieweng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue4
oaire.citation.titleGenes
oaire.citation.volume17
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameCainé
person.familyNameHenriques
person.familyNameAfonso Costa
person.familyNameCorreia Dias
person.familyNameFranco
person.familyNameMukan
person.familyNameCosta Marcos do Nascimento
person.familyNameAmorim
person.givenNameLaura
person.givenNameMadalena
person.givenNameHeloísa
person.givenNameMaria Helena
person.givenNameMagda
person.givenNameOlena
person.givenNameRui Francisco
person.givenNameAntónio
person.identifierAAR-9087-2020
person.identifier.ciencia-id021A-33DD-869D
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person.identifier.ciencia-id331B-529A-08AE
person.identifier.ciencia-idA819-AA5E-FAC6
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person.identifier.ciencia-idCB1A-8B8D-78F1
person.identifier.orcid0000-0002-6542-4256
person.identifier.orcid0000-0001-5797-3856
person.identifier.orcid0000-0002-7823-7687
person.identifier.orcid0000-0003-4711-6038
person.identifier.orcid0000-0003-1604-334X
person.identifier.orcid0000-0003-0194-4292
person.identifier.orcid0000-0002-0478-336X
person.identifier.orcid0000-0002-7506-4426
person.identifier.ridJ-5725-2015
person.identifier.ridA-4414-2013
person.identifier.scopus-author-id2311978
person.identifier.scopus-author-id24729171700
person.identifier.scopus-author-id35253426400
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