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Title

P123 – Harnessing the Power of Microhaplotypes for Forensic Identification in the Democratic Memory Context in Spain

16:07

Wednesday August 19^th

Station 08

Duration: 12 minutes

03. Human identification

María de la Puente

The identification of highly degraded human remains poses a significant challenge nowadays in forensic genetics. Insights from the works on the Democratic Memory framework in Spain show that less than 25% of the human remains recovered from mass graves are finally identified and returned to their families. This is mainly because of two factors: the low level of integrity and quantity of the recovered DNA that hinder the analysis of length polymorphisms such as STRs, and the distance of reference relatives, with second- or third-degree kinship relations being the most common. Nowadays, the Secretariat of State for Democratic Memory is preparing to launch a National Database where STRs, mtDNA and Y-STR profiles of reference and exhumated remains will be compared to each other, potentially increasing the number of matches that do not reach the identification threshold and urging for a specific solution.

To address this challenge, we present a DVI workflow combining two different microhaplotype (MH) panels [1,2] in a single PCR reaction and library construction assay, sequenced on the Ion S5 instrument. We have performed an extensive validation of the workflow and simulations on its informativeness in different scenarios. Moreover, we have applied it to the analysis of real identification casework from the Democratic Memory context, accounting for marker linkage by using open-source software FamLink2 [3].

The results of the validation and casework prove its applicability in this context and represent a valuable addition to forensic genetics, offering a targeted solution to improve identification rates in mass grave exhumations and other complex investigative contexts.

Authors

María de la Puente (Forensic Genetics Unit, Institute of Forensic Sciences, Universidade de Santiago de Compostela, Spain)
Lucía Casanova-Adán (Forensic Genetics Unit, Institute of Forensic Sciences, Universidade de Santiago de Compostela, Spain)
Javier González-Bao (Forensic Genetics Unit, Institute of Forensic Sciences, Universidade de Santiago de Compostela, Spain)
Ana Mosquera-Miguel (Forensic Genetics Unit, Institute of Forensic Sciences, Universidade de Santiago de Compostela, Spain)
Amaia Cabrejas-Olalla (Forensic Genetics Unit, Institute of Forensic Sciences, Universidade de Santiago de Compostela, Spain)
Adrián Ambroa-Conde (Forensic Genetics Unit, Institute of Forensic Sciences, Universidade de Santiago de Compostela, Spain)
Carmen Tomas-Mas (Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark)
Llúcia Martínez-Priego (Bioinformatics and Sequencing Service of Foundation for the Promotion of Health and Biomedical Research in the Valencian Region (FISABIO – Public Health), Spain)
Jorge Ruiz-Ramírez (Bioinformatics and Sequencing Service of Foundation for the Promotion of Health and Biomedical Research in the Valencian Region (FISABIO – Public Health), Spain)
Sandra Carbó-Ramírez (Bioinformatics and Sequencing Service of Foundation for the Promotion of Health and Biomedical Research in the Valencian Region (FISABIO – Public Health), Spain)
Christopher Phillips (Forensic Genetics Unit, Institute of Forensic Sciences, Universidade de Santiago de Compostela, Spain)
Vania Pereira (Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark)
María Victoria Lareu (Forensic Genetics Unit, Institute of Forensic Sciences, Universidade de Santiago de Compostela, Spain)

References

[1] de la Puente M, et al. FSI Genetics. 2020, 45:102213
[2] Oldoni F, et al. FSI Genetics. 2020, 49:102367
[3] Kling D, et al. FSI Genetics. 2025, 74:103150

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P123 – Harnessing the Power of Microhaplotypes for Forensic Identification in the Democratic Memory Context in Spain

Authors

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