A5038321833- Forensic and Genetic Research
- Archaeology and ancient environmental studies
- Forensic Anthropology and Bioarchaeology Studies
- Genomics and Phylogenetic Studies
- Environmental DNA in Biodiversity Studies
- Genetic diversity and population structure
- Isotope Analysis in Ecology
- Paleopathology and ancient diseases
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Molecular Biology Techniques and Applications
- Yersinia bacterium, plague, ectoparasites research
- Prenatal Screening and Diagnostics
- Race, Genetics, and Society
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
The University of Adelaide
2020-2024
University of Coimbra
2024
Abstract Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed human genetics today. To explore presence of historic prehistoric populations we screen nearly 10,000 ancient individuals for three copies any target autosomes. We find clear evidence six cases trisomy 21 (Down syndrome) one case 18 (Edwards syndrome), all are present infant or perinatal burials. perform comparative osteological examinations skeletal remains overlapping markers, many...
In-solution hybridisation enrichment of genetic variation is a valuable methodology in human paleogenomics. It allows endogenous DNA by targeting markers that are comparable between sequencing libraries. Many studies have used the 1240k reagent-which enriches 1,237,207 genome-wide SNPs-since 2015, though access was restricted. In 2021, Twist Biosciences and Daicel Arbor independently released commercial kits enabled all researchers to perform enrichments for same 1240 k SNPs. We Prime Plus...
The Southern Cone of South America (SCSA) is a key region for investigations about the peopling Americas. However, little known eastern sector, Argentinian Pampas. We analyzed 18 mitochondrial genomes-7 which are novel-from human skeletal remains from 3 Early to Late Holocene archaeological sites. Pampas present distinctive genetic makeup compared other Middle pre-Columbian SCSA populations. also report earliest individuals carrying SCSA-specific haplogroups D1j and D1g Holocene,...
In around 716 AD, the city of Santarém, Portugal, was conquered by Berber and Arab armies that swept Iberian Peninsula went on to rule region until 12 th century. Archaeological excavations in 2007/08 discovered an Islamic necropolis (Avenida 5 de Outubro #2–8) appears contain remains early Muslim population Santarém (8 – 10 century). this study, skeletal material from 58 adult individuals analysed for stable carbon ( δ 13 C col ; ap ), nitrogen 15 N) sulphur 34 S) isotope ratios bones,...
Abstract In-solution hybridisation enrichment of genetic markers is a method choice in paleogenomic studies, where the DNA interest generally heavily fragmented and contaminated with environmental DNA, retrieval data comparable between individuals challenging. Here, we benchmarked commercial “Twist Ancient DNA” reagent from Twist Biosciences using sequencing libraries ancestrally diverse ancient human samples low to high endogenous content (0.1–44%). For each library, tested one two rounds...
Les récentes avancées en paléogénomique ont ouvert de nouvelles perspectives sur l’étude des pratiques funéraires et structures sociales Mésoamérique. Cette note présente les premiers résultats d’un programme cours dans une petite résidence le site Naachtun (Guatemala) numérotée 5N6. possibilités d’estimation du sexe offertes par analyses l’ADN ancien révèlent prédominance sujets féminins parmi morts ce petit groupe. Elles mettent également valeur la fiabilité méthodes ostéologiques sexe....
In many human rights and criminal contexts, skeletal remains are often the only available samples, they present a significant challenge for forensic DNA profiling due to degradation. Ancient methods, particularly capture hybridization enrichment, have been proposed dealing with severely degraded bones, given their capacity yield results in ancient remains. This paper aims test efficacy of genome-wide enrichment on compared autosomal STRs analysis. Six highly bones from Spanish Civil War...
Background: Recent ancient DNA studies uncovering large-scale demographic events in Iberia have focused primarily on Spain, with limited reports for Portugal, a country located at the westernmost edge of continental Eurasia. Here, we introduce largest collection Portuguese genomic datasets (n = 68) to date, spanning 5,000 years, from Neolithic 19th century. Results: We found evidence patrilocality admixture local hunter-gatherers and Anatolian farmers, persistence Upper Paleolithic...
Abstract Contamination with exogenous DNA presents a significant challenge in ancient (aDNA) studies of single organisms. Failure to address contamination from microbes, reagents, and present-day sources can impact the interpretation results. Although field laboratory protocols exist limit contamination, there is still need accurately distinguish between endogenous data computationally. Here, we propose workflow reduce based on metagenomic classifier. Unlike previous methods that relied...
Ancient DNA analysis of ancestral Mexicans reveals a complex demographic history.
Abstract In-solution hybridisation enrichment of genetic variation is a valuable methodology in human paleogenomics. It allows endogenous DNA by targeting markers that are comparable between sequencing libraries. Many studies have used the 1240k reagent—which enriches 1,237,207 genome-wide SNPs—since 2015, though access was restricted. In 2021, Twist Biosciences and Daicel Arbor independently released commercial kits enabled all researchers to perform enrichments for same SNPs. We Prime Plus...
Many of us are fascinated by narratives regarding the origin and evolution our species. Who we? How did we people world? Answers to these simple questions remain elusive even though researchers have been quite successful in describing past human morphology culture using evidence from anthropology, archaeology, history, sociology linguistics. However, when they address migrations, archaeologists somewhat restricted surviving artifactual limited descriptions expansions, which may occurred...