Cláudia Gomes

Background/Objectives: Forensic DNA phenotyping (FDP), the inference of externally visible characteristics from biological trace evidence, has become an operational investigative tool, yet its implications for criminal justice systems remain poorly understood outside specialist forensic circles. This study examines the scientific foundations, operational utility, and regulatory context of FDP, and situates its findings within a criminological framework that forensic science literature has largely overlooked. Methods: A narrative review of scientific and legal literature was conducted across six electronic databases, covering publications up to 2026. This was complemented by a structured analysis of publicly documented criminal investigations in which FDP was operationally applied, incorporating both successful outcomes and documented failure contexts drawn from peer-reviewed validation studies. Results: Pigmentation traits are predicted with substantial reliability by validated systems; accuracy declines markedly for complex traits and non-European populations. Casework evidence suggests that FDP can contribute to the reactivation of stalled investigations when combined with complementary methods but is insufficient for identification in isolation. Among the nine European jurisdictions examined, several lack explicit legal frameworks governing phenotyping deployment, with Spain serving as a representative example. Conclusions: The disconnect between forensic science and criminal justice practice is itself a governance problem. FDP has shown investigative potential and, in some documented cases, restorative value—particularly in cold cases—but its responsible deployment requires simultaneous progress in scientific validation, regulatory reform, and the professional training of legal practitioners who currently lack the knowledge to deploy or oversee it effectively.

Recent advances in archeogenetics offer vital biological data to complement traditional anthropological approaches. This study presents a global archeobiological and arcaheogenetics study, focused on the mitochondrial DNA (mtDNA) analysis of five individuals from the 7th-century CE church and subsequent medieval phases at El Rebollar (El Boalo, Madrid) to reconstruct population dynamics and maternal lineages. Hypervariable regions I and II were analyzed from three high-status sarcophagi adults and two subsequent perinatals. Results reveal a highly diverse population mosaic: adults harbored distinct lineages, including European haplogroups H2a2 and T1a, alongside a remarkable trans-Mediterranean signal (haplogroup L3h2) linked to the Horn of Africa. Conversely, both perinatals shared the autochthonous Iberian haplogroup HV0, confirming long-term demographic resilience of the local substrate. Pop-wide comparative analyses (AMOVA and F_ST distances) show significant micro-regional genetic discontinuity, isolating El Boalo from immediate peninsular neighbors while aligning it with cosmopolitan mixed sites (Pla de l’Horta, Girona) and Central Europe, but discarding direct Eastern European (Viminacium) Gothic flows. We conclude that El Rebollar’s profile reflects the accumulation and fixation of ancestral gene flows during the 5th and 6th centuries CE, challenging traditional paradigms of Late Antique rural isolation in central Iberia.

Background/Objectives: Sex estimation is a cornerstone of research and practice in bioarchaeology and forensic anthropology. However, morphological and metric methods are often hampered by population-specific variation, subjectivity in assessment, and taphonomy. This study compares morphological analysis and ancient DNA (aDNA)-based sex assessment in a 19th-century Portuguese sample to evaluate the accuracy of osteological (anthropological) criteria. Methods: This study analysed 37 skeletons from the Venerável Ordem Terceira da Nossa Senhora do Carmo burial grounds in Porto. Sex estimation was based on (1) the bioanthropological assessment of morphological traits of the os coxae and the skull (2) through aDNA analysis using a multi-marker approach, including real-time PCR (qPCR) targeting autosomal loci, the amelogenin locus, a Y-chromosomal INDEL, and Y-STRs. aDNA was extracted via a non-destructive protocol. Results: Whilst anthropological analysis was possible on all 37 individuals, estimation of sex through aDNA analysis was possible for 26 individuals. A 20% discordance rate was found between morphological and aDNA results. Many individuals morphologically classified as “possible female” or “indeterminate” were genetically identified as male. Genetic analysis resolved most cases that biological anthropologists concluded were “indeterminate”. Conclusions: The high discordance in the Carmo sub-sample may indicate reduced skeletal sexual dimorphism, with males exhibiting skeletal traits typically associated with females, suggesting a sample-specific reduction in sexual dimorphism likely influenced by environmental, nutritional, and/or genetic stressors. A limitation of this study is its small sample size: only 26 of 37 individuals yielded usable genetic results, and only a portion of these individuals provided sufficient data for a direct comparison between morphological and genetic data. Nevertheless, these findings highlight the risk that applying generalised osteological standards relying solely on morphology can lead to systematic misclassification, emphasising the need for a critical, multidisciplinary approach to sex estimation.

Burying objects with biological material is a common procedure in many crimes, intending to hide and/or accelerate the process of degradation of the possible biological information they may contain. In this sense, the central question of this preliminary study concerns investigating the impact of a burial process on the degradation of genetic material, specifically on blood and saliva samples, compared to the same type of samples deposited on the surface. Saliva and blood samples were methodically positioned on a white cotton T-shirt, with half of the samples being buried and the other half placed on the surface of the soil within the same quadrant of the box. The degradation was analysed using two complementary approaches: genetic material quantification and genetic profile analysis of autosomal markers, considering also physicochemical factors such as humidity, temperature, and pH. Preliminary results indicate a significant interaction between time, sample location, and sample type in driving genetic loss. Notably, a significant, irreversible loss of genetic material was observed within an average of five weeks for both sample types when buried. Despite the preliminary nature of these findings due to the absence of experimental replicates, they provide a critical forensic baseline for estimating the viable window for DNA profiling in buried evidence.

The identification of victims from the Spanish Civil War (1936–1939) has been a subject of historical research and familial interest in locating lost relatives since the late twentieth century in Spain. Acquiring well-preserved postmortem samples from these individuals is crucial for subsequent genotyping and identification, and this proves challenging with low-template DNA samples. Through the utilization of the GlobalFiler™ IQC PCR Amplification Kit (Thermo Fisher Scientific) in 490 samples from 245 cadaveric individuals, we have conducted a study on factors that may affect or serve as indicators of the quality of the autosomal electropherogram and the effectiveness of obtaining a complete reliable profile. The most significant factor in the samples has proven to be the site of extraction, namely, the archaeological sites. The conservation of the samples has been positively and negatively influenced by environmental conditions. Regarding the type of sample, we obtained better results in dental samples than in bones, and when only bones were able to be used, the phalanges produced better results in complete profiles, except for the petrous portion of the temporal bones, which were carried out in a very poorly preserved site. Concerning the obtained electropherograms, the presence of artifacts (stutters), has been analyzed as an indicator of profiles with an acceptable quantity and quality of DNA, in contrast to the presence of drop-outs, which are associated with the impossibility of obtaining a complete profile.

Las características de la ubicación de la tumba de Casa del Carpio (Belvís de la Jara, Toledo), las circunstancias de su documentación, y lo excepcional del ajuar documentado han contribuido a valorarla como un enterramiento de singular valor dentro de la Primera Edad del Hierro del valle medio del Tajo. En los últimos años se han analizado y revisado una serie de elementos del ajuar y de los individuos asociados a la tumba. Los resultados que se presentan en este trabajo permiten revalorizar la interpretación de este enterramiento en el marco de las relaciones de las comunidades indígenas del valle del Tajo, con el mundo colonial fenicio a través de contactos que propiciaron el intercambio de mercancías, ideas y personas. Las características de la ubicación de la tumba de Casa del Carpio (Belvís de la Jara, Toledo), las circunstancias de su documentación, y lo excepcional del ajuar documentado han contribuido a valorarla como un enterramiento de singular valor dentro de la Primera Edad del Hierro del valle medio del Tajo. En los últimos años se han analizado y revisado una serie de elementos del ajuar y de los individuos asociados a la tumba. Los resultados que se presentan en este trabajo permiten revalorizar la interpretación de este enterramiento en el marco de las relaciones de las comunidades indígenas del valle del Tajo, con el mundo colonial fenicio a través de contactos que propiciaron el intercambio de mercancías, ideas y personas. Las características de la ubicación de la tumba de Casa del Carpio (Belvís de la Jara, Toledo), las circunstancias de su documentación, y lo excepcional del ajuar documentado han contribuido a valorarla como un enterramiento de singular valor dentro de la Primera Edad del Hierro del valle medio del Tajo. En los últimos años se han analizado y revisado una serie de elementos del ajuar y de los individuos asociados a la tumba. Los resultados que se presentan en este trabajo permiten revalorizar la interpretación de este enterramiento en el marco de las relaciones de las comunidades indígenas del valle del Tajo, con el mundo colonial fenicio a través de contactos que propiciaron el intercambio de mercancías, ideas y personas. Las características de la ubicación de la tumba de Casa del Carpio (Belvís de la Jara, Toledo), las circunstancias de su documentación, y lo excepcional del ajuar documentado han contribuido a valorarla como un enterramiento de singular valor dentro de la Primera Edad del Hierro del valle medio del Tajo. En los últimos años se han analizado y revisado una serie de elementos del ajuar y de los individuos asociados a la tumba. Los resultados que se presentan en este trabajo permiten revalorizar la interpretación de este enterramiento en el marco de las relaciones de las comunidades indígenas del valle del Tajo, con el mundo colonial fenicio a través de contactos que propiciaron el intercambio de mercancías, ideas y personas. Las características de la ubicación de la tumba de Casa del Carpio (Belvís de la Jara, Toledo), las circunstancias de su documentación, y lo excepcional del ajuar documentado han contribuido a valorarla como un enterramiento de singular valor dentro de la Primera Edad del Hierro del valle medio del Tajo. En los últimos años se han analizado y revisado una serie de elementos del ajuar y de los individuos asociados a la tumba. Los resultados que se presentan en este trabajo permiten revalorizar la interpretación de este enterramiento en el marco de las relaciones de las comunidades indígenas del valle del Tajo, con el mundo colonial fenicio a través de contactos que propiciaron el intercambio de mercancías, ideas y personas. Las características de la ubicación de la tumba de Casa del Carpio (Belvís de la Jara, Toledo), las circunstancias de su documentación, y lo excepcional del ajuar documentado han contribuido a valorarla como un enterramiento de singular valor dentro de la Primera Edad del Hierro del valle medio del Tajo. En los últimos años se han analizado y revisado una serie de elementos del ajuar y de los individuos asociados a la tumba. Los resultados que se presentan en este trabajo permiten revalorizar la interpretación de este enterramiento en el marco de las relaciones de las comunidades indígenas del valle del Tajo, con el mundo colonial fenicio a través de contactos que propiciaron el intercambio de mercancías, ideas y personas. Las características de la ubicación de la tumba de Casa del Carpio (Belvís de la Jara, Toledo), las circunstancias de su documentación, y lo excepcional del ajuar documentado han contribuido a valorarla como un enterramiento de singular valor dentro de la Primera Edad del Hierro del valle medio del Tajo. En los últimos años se han analizado y revisado una serie de elementos del ajuar y de los individuos asociados a la tumba. Los resultados que se presentan en este trabajo permiten revalorizar la interpretación de este enterramiento en el marco de las relaciones de las comunidades indígenas del valle del Tajo, con el mundo colonial fenicio a través de contactos que propiciaron el intercambio de mercancías, ideas y personas. Las características de la ubicación de la tumba de Casa del Carpio (Belvís de la Jara, Toledo), las circunstancias de su documentación, y lo excepcional del ajuar documentado han contribuido a valorarla como un enterramiento de singular valor dentro de la Primera Edad del Hierro del valle medio del Tajo. En los últimos años se han analizado y revisado una serie de elementos del ajuar y de los individuos asociados a la tumba. Los resultados que se presentan en este trabajo...

Aquí se presentan los resultados obtenidos del análisis genético realizado sobre cuatro individuos exhumados en Horts de Can Torras (Castellar del Vallés, Barcelona) (4000-3800 cal BC). Esta sepultura colectiva es muy particular, pues son muy pocos los enterramientos con cuatro individuos inhumados durante ese periodo en la región. En este caso se trata de dos individuos adultos y dos subadultos. El objetivo principal de este estudio fue la obtención de información genética con la que establecer si se trataba o no de una posible familia biológica; así como investigar su posible origen biogeográfico a través del linaje materno. Únicamente fue posible la obtención de perfiles de ADN mitocondrial en dos de los cuatro individuos estudiados; determinando sus respectivos haplogrupos mitocondriales (R6a2 y HV0). Los resultados demostraron que ambos individuos no estaban emparentados entre sí a través del linaje materno, lo cual no descarta otro tipo de relación a través del linaje paterno.

Background: In prehistoric societies, especially in the Neolithic period, the study of the palaeodiet assumes special importance as it is one of the points in human history characterised by important changes in diet. In this context, the study of food intolerances is even more significant. Methods: Some of the individuals studied were analysed from a genetic point of view, while a systematic literature review was performed from a genetic perspective, verifying the persistence or absence of lactase in adulthood, and information from necropolises regarding the presence of biomarkers linked to possible consumption of dairy products was analysed. Results: The results indicate a clear majority of individuals with hypolactasia in adulthood, although in a Pyrenean necropolis, studied here for the first time, the lactase persistence allele was already detected. Dairy consumption was also verified to be widespread in very early Neolithic periods. Conclusions: From a population perspective, this study enables a deeper understanding of past populations’ daily lives, expanding our perspective on their dietary patterns. From an evolutionary standpoint, it illuminates a pivotal point in human history and evolution within the European context, where past and modern dairy consumption, particularly cheese, has profound implications for both present and past economies.

Under the initiative of the “Direcció General de Memòria democràtica-Departament de Justícia” (Generalitat of Catalonia, Spain), a multi-disciplinar project was funded to identify the remains of people disappeared in Catalonia during and after the Spanish Civil War (1936–1939). Samples were officially sent by Autonomous Government of Catalonia to the Laboratory of Forensic and Population Genetics at Complutense University, Madrid, Spain, to be genotyped. Our study presents a database of 343 victims genotyped for STRs comprised in GlobalFiler™ PCR Amplification Kit (Thermofisher Scientific) and a subset of 292 typed with Y-STRs from Yfiler™ Plus PCR Amplification Kit (Thermofisher Scientific). Complete profiles amounted to 116 (33.81%) and 89 (30.48%) for autosomal and Y-STRs respectively. Allelic/haplotype frequencies, forensic parameters and HW equilibrium were calculated with STRAF software. Drop-out frequencies were also calculated for each locus. All the markers were in HW equilibrium (p > 0.05). Allelic drop-out frequencies were larger in the case of CSF1PO (1.5340E-01) and TPOX (1.2640E-01), probably due to extremely low DNA preservation combined with a less efficient PCR for these loci, among other causes. The comparison of our autosomal database with a set of modern European populations from STRidER database (ENFSI) reveals that the present study sample clusters with other West European samples. This is also the case for Y-STR when our study is compared with European and North African samples. Our results seem to suggest that modern Spanish forensic databases can be used to identify deceased persons during the Spanish Civil War and later, from their living descendants.