Vânia Pereira
YOU?
Author Swipe
View article: MHappaMundi: A custom AmpliSeq microhaplotype panel for ancestry inference
MHappaMundi: A custom AmpliSeq microhaplotype panel for ancestry inference Open
Recent advancements in massively parallel sequencing technologies have led to the exploration of a new class of genetic markers called microhaplotypes (MHs). MHs exhibit unique characteristics that highlight their potential as viable alter…
View article: Mixture Deconvolution with Massively Parallel Sequencing Data: Microhaplotypes Versus Short Tandem Repeats
Mixture Deconvolution with Massively Parallel Sequencing Data: Microhaplotypes Versus Short Tandem Repeats Open
Background/Objectives: Interpretation of mixture profiles generated from crime scene samples is an important element in forensic genetics. Here, a workflow for mixture deconvolution of sequenced microhaplotypes (MHs) and STRs using the pro…
View article: Artificial Intelligence and Energy
Artificial Intelligence and Energy Open
The growing integration of intermittent renewable energy sources poses new challenges to power system stability [...]
View article: Enhancing the Potential of Microhaplotypes for Forensic Applications: Insights from Afghan and Somali Populations
Enhancing the Potential of Microhaplotypes for Forensic Applications: Insights from Afghan and Somali Populations Open
Microhaplotypes (MHs) are a novel class of genetic markers, exhibiting features that position them as an alternative to STRs and SNPs in addressing challenges commonly encountered in forensic investigations. Additionally, MHs can also offe…
View article: Evaluation of the HumanMethylationEPIC v2.0 Bead Chip using low quality and quantity DNA samples
Evaluation of the HumanMethylationEPIC v2.0 Bead Chip using low quality and quantity DNA samples Open
Background: The HumanMethylationEPIC v2.0 BeadChip (EPIC v2.0) microarray is a widely used tool for genome-wide DNA methylation (DNAm) analysis, designed for high-quality human DNA with a recommended input of 250 ng. However, in clinical a…
View article: X-chromosomal STRs: Metapopulations and mutation rates
X-chromosomal STRs: Metapopulations and mutation rates Open
The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge…
View article: Association Between Venous Mesenteric Thrombosis and Plasminogen Activator Inhibitor-1 Mutation
Association Between Venous Mesenteric Thrombosis and Plasminogen Activator Inhibitor-1 Mutation Open
Plasminogen activator inhibitor-1 (PAI-1) is central to fibrinolysis regulation, and genetic variants such as the 4G/4G genotype predispose individuals to hypercoagulability. This case highlights a 46-year-old female patient presenting wit…
View article: Independent evaluation of an 11-CpG panel for age estimation in blood
Independent evaluation of an 11-CpG panel for age estimation in blood Open
DNA methylation patterns have emerged as reliable markers for age estimation, offering potential applications in forensic investigations, namely, in cases where there is no information about a possible suspect, in the identification of vic…
View article: Performance of a 74-Microhaplotype Assay in Kinship Analyses
Performance of a 74-Microhaplotype Assay in Kinship Analyses Open
Microhaplotypes (MHs) consisting of multiple SNPs and indels on short stretches of DNA are new and interesting loci for forensic genetic investigations. In this study, we analysed 74 previously defined MHs in two of the populations that ou…
View article: Application of Targeted Y‐Chromosomal Capture Enrichment to Increase the Resolution of Native American Haplogroup Q
Application of Targeted Y‐Chromosomal Capture Enrichment to Increase the Resolution of Native American Haplogroup Q Open
Y‐chromosomal haplogroups and the Y‐SNPs defining them are relevant for the exploration of male lineages, inference of paternal ancestry, and reconstruction of migration pathways, to name a few. Currently, over 300,000 Y‐SNPs have been rep…
View article: Longitudinal changes and variation in human DNA methylation analysed with the Illumina MethylationEPIC BeadChip assay and their implications on forensic age prediction
Longitudinal changes and variation in human DNA methylation analysed with the Illumina MethylationEPIC BeadChip assay and their implications on forensic age prediction Open
DNA methylation, a pivotal epigenetic modification, plays a crucial role in regulating gene expression and is known to undergo dynamic changes with age. The present study investigated epigenome-wide methylation profiles in 64 individuals o…
View article: SNPtotree—Resolving the Phylogeny of SNPs on Non-Recombining DNA
SNPtotree—Resolving the Phylogeny of SNPs on Non-Recombining DNA Open
Genetic variants on non-recombining DNA and the hierarchical order in which they accumulate are commonly of interest. This variant hierarchy can be established and combined with information on the population and geographic origin of the in…
View article: Pitfalls and challenges with population assignments of individuals from admixed populations: Applying Genogeographer on Brazilian individuals
Pitfalls and challenges with population assignments of individuals from admixed populations: Applying Genogeographer on Brazilian individuals Open
The assignment of individuals to a population can be of importance for the identification of mass disaster victims or criminal offenders in the field of forensic genetics. This assignment is based on biostatistical methods that process dat…
View article: Prediction of chronological age and its applications in forensic casework: methods, current practices, and future perspectives
Prediction of chronological age and its applications in forensic casework: methods, current practices, and future perspectives Open
Estimating an individual’s age can be relevant in several areas primarily related to the clinical and forensic fields. In the latter, estimation of an individual’s chronological age from biological material left by the perpetrator at a cri…
View article: Development of an Okinawa panel for biogeographic inference of Okinawans
Development of an Okinawa panel for biogeographic inference of Okinawans Open
Neither SNP set could completely differentiate between Okinawa Japanese and other Asian groups, however, these sets should be useful for crime investigation, when the sample, cost and time are limited.
View article: Development of an Okinawa panel for biogeographic inference of Okinawans
Development of an Okinawa panel for biogeographic inference of Okinawans Open
The Precision ID Ancestry Panel with 165 SNP markers was unable to differentiate between mainland Japanese and Okinawa Japanese or to distinguish either of them from other East Asian populations. An Okinawa panel was developed with the aim…
View article: Evaluation of the ForenSeq mtDNA Whole Genome Kit for massively parallel sequencing of mitochondrial genomes
Evaluation of the ForenSeq mtDNA Whole Genome Kit for massively parallel sequencing of mitochondrial genomes Open
The performance of Verogen’s ForenSeq mtDNA Whole Genome Kit and its possible application in a forensic setting was evaluated. We carried out three sequencing runs that included 1) a dilution series of two different samples (200–6.25 pg in…
View article: Targeted Y chromosome capture enrichment in admixed South American samples with haplogroup Q
Targeted Y chromosome capture enrichment in admixed South American samples with haplogroup Q Open
Y haplogroups, defined by Y-SNPs, allow the reconstruction of the human Y chromosome genealogy. Recently, MPS based panels were introduced in the forensic genetics community for Y-SNP typing and identification of a broad range of haplogrou…
View article: Testing the Ion AmpliSeq™ HID Y-SNP Research Panel v1 for performance and resolution in admixed South Americans of haplogroup Q
Testing the Ion AmpliSeq™ HID Y-SNP Research Panel v1 for performance and resolution in admixed South Americans of haplogroup Q Open
Y haplogroups, defined by Y-SNPs, allow the reconstruction of the human Y chromosome genealogy, which is important for population, evolutionary and forensic genetics. In this study, Y-SNPs were typed and haplogroups inferred with the MPS I…
View article: Genetic analysis of sixteen autosomal STR loci in three Tunisian populations from Makthar, Nabeul and Sousse
Genetic analysis of sixteen autosomal STR loci in three Tunisian populations from Makthar, Nabeul and Sousse Open
Due to its strategic location, Tunisia witnessed the succession and influence of many civilisations throughout history. However, the majority of studies carried out on Tunisia are focussed on Barbarian ethnicity. To estimate genetic divers…
View article: Assessment of the effectiveness of the EUROFORGEN NAME and Precision ID Ancestry panel markers for ancestry investigations
Assessment of the effectiveness of the EUROFORGEN NAME and Precision ID Ancestry panel markers for ancestry investigations Open
The EUROFORGEN NAME panel is a second-tier ancestry panel designed to differentiate individuals from the Middle East, North Africa, and Europe. The first version of the panel was developed for the MassARRAY® system and included 111 SNPs. H…
View article: Evaluation of the Precision of Ancestry Inferences in South American Admixed Populations
Evaluation of the Precision of Ancestry Inferences in South American Admixed Populations Open
Ancestry informative markers (AIMs) are used in forensic genetics to infer biogeographical ancestry (BGA) of individuals and may also have a prominent role in future police and identification investigations. In the last few years, many stu…