Ana Mosquera

Ana Mosquera
University of Santiago de Compostela | USC · Instituto de Ciencias Forenses "Luís Concheiro"

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57
Publications
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1,018
Citations
Citations since 2017
16 Research Items
631 Citations
2017201820192020202120222023020406080100120140
2017201820192020202120222023020406080100120140
2017201820192020202120222023020406080100120140
2017201820192020202120222023020406080100120140

Publications

Publications (57)
Article
Full-text available
To compile a new South Asian-informative panel of forensic ancestry SNPs, we changed the strategy for selecting the most powerful markers for this purpose by targeting polymorphisms with near absolute specificity – when the South Asian-informative allele identified is absent from all other populations or present at frequencies below 0.001 (one in a...
Article
Full-text available
Responding to the growing scientific and practical interest in forensic DNA phenotyping, the VISible Attributes through GEnomics (VISAGE) Consortium was founded in 2017 with the main goal of developing and validating new and reliable molecular and statistical tools to predict appearance, ancestry and age from DNA. Here, we describe the development...
Article
Full-text available
Age estimation based on epigenetic markers is a DNA intelligence tool with the potential to provide relevant information for criminal investigations, as well as to improve the inference of age-dependent physical characteristics such as male pattern baldness or hair color. Age prediction models have been developed based on different tissues, includi...
Article
Forensic age estimation is a DNA intelligence tool that forms an important part of Forensic DNA Phenotyping. Criminal cases with no suspects or with unsuccessful matches in searches on DNA databases; human identification analyses in mass disasters; anthropological studies or legal disputes; all benefit from age estimation to gain investigative lead...
Article
DNA methylation has become one of the most useful biomarkers for age prediction and body fluid identification in the forensic field. Therefore, several assays have been developed to detect age-associated and body fluid-specific DNA methylation changes. Among the many methods developed, SNaPshot-based assays should be particularly useful in forensic...
Article
Full-text available
We detail the development of the ancestry informative single nucleotide polymorphisms (SNPs) panel forming part of the VISAGE Basic Tool (BT), which combines 41 appearance predictive SNPs and 112 ancestry predictive SNPs (three SNPs shared between sets) in one massively parallel sequencing (MPS) multiplex, whereas blood-based age analysis using met...
Article
One of the main goals of the Spanish and Portuguese-Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) is to promote and contribute to the development and dissemination of scientific knowledge in the field of forensic genetics. The GHEP-ISFG supports several Working Commissions which develop different scientific a...
Article
Full-text available
Individual age estimation can be applied to criminal, legal, and anthropological investigations. DNA methylation has been established as the biomarker of choice for age prediction, since it was observed that specific CpG positions in the genome show systematic changes during an individual’s lifetime, with progressive increases or decreases in methy...
Article
Full-text available
Forensic DNA phenotyping is gaining interest as the number of applications increases within the forensic genetics community. The possibility of providing investigative leads in addition to conventional DNA profiling for human identification provides new insights into otherwise “cold” police investigations. The ability of reporting on the bio-geogra...
Article
Full-text available
DNA intelligence, and particularly the inference of biogeographical ancestry (BGA) is increasing in interest, and relevance within the forensic genetics community. The majority of current MPS-based forensic ancestry-informative assays focus on the differentiation of major global populations. The recently published MAPlex (Multiplex for the Asia Pac...
Article
Full-text available
Current forensic ancestry-informative panels are limited in their ability to differentiate populations in the Asia-Pacific region. MAPlex (Multiplex for the Asia-Pacific), a massively parallel sequencing (MPS) assay, was developed to improve differentiation of East Asian, South Asian and Near Oceanian populations found in the extensive cross-contin...
Article
Human head hair shape, commonly classified as straight, wavy, curly or frizzy, is an attractive target for Forensic DNA Phenotyping and other applications of human appearance prediction from DNA such as in paleogenetics. The genetic knowledge underlying head hair shape variation was recently improved by the outcome of a series of genome-wide associ...
Article
DNA methylation is the most extensively studied epigenetic signature, with a large number of studies reporting age-correlated CpG sites in overlapping genes. However, most of these studies lack sample coverage of individuals under 18 years old and therefore little is known about the progression of DNA methylation patterns in children and adolescent...
Article
One of the main goals of the Spanish and Portuguese-Speaking Group of the International Society for Forensic Genetics (GHEP-ISFG) is to promote and contribute to the development and dissemination of scientific knowledge in the field of forensic genetics. Due to this fact, GHEP-ISFG holds different working commissions that are set up to develop acti...
Article
In a previous study we presented an assay for targeted mRNA sequencing for the identification of human body fluids, optimised for the Illumina MiSeq/FGx MPS platform. This assay, together with an additional in-house designed assay for the Ion Torrent PGM/S5 platform, was the basis for a collaborative exercise within 17 EUROFORGEN and EDNAP laborato...
Article
A collaborative European DNA Profiling (EDNAP) Group exercise was undertaken to assess the performance of an earlier described SNaPshot™-based screening assay (denoted mini-mtSNaPshot) (Weiler et al., 2016) [1] that targets 18 single nucleotide polymorphism (SNP) positions in the mitochondrial (mt) DNA control region and allows for discrimination o...
Article
Full-text available
The Iberian Peninsula has been the focus of attention of numerous studies dealing with mitochondrial DNA (mtDNA) variation, most of them targeting the control region segment. In the present study we sequenced the control region of 3,024 Spanish individuals from areas where available data were still limited. We also compiled mtDNA haplotypes from th...
Data
Haplogroup frequencies by (politically-defined) Spanish Autonomous Regions. See legend of Fig 1 for more information. (TIF)
Data
Mitochondrial DNA sequences obtained in the present study. (XLSX)
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Mitochondrial DNA sequences compiled from the literature and used for population comparisons. (XLSX)
Data
Complete mtDNA genomes obtained in the present study and those (collected from the literature and databases) used to generate the phylogenetic tree in Fig 4. (XLSX)
Article
Individual age estimation has the potential to provide key information that could enhance and extend DNA intelligence tools. Following predictive tests for externally visible characteristics developed in recent years, prediction of age could guide police investigations and improve the assessment of age-related phenotype expression patterns such as...
Article
Full-text available
Guatemala is a multiethnic and multilingual country located in Central America. The main population groups separate 'Ladinos' (mixed Native American-African-Spanish), and Native indigenous people of Maya descent. Among the present-day Guatemalan Maya, there are more than 20 different ethnic groups separated by different languages and cultures. Gene...
Article
Certain mitochondrial DNA (mtDNA) variants and haplogroups have been found to be associated with neurological disorders. Several studies have suggested that mtDNA variation could have an etiologic role in these disorders by affecting the ATP production on high-energy demanding organs, such as the brain. We have analyzed 15 mtDNA SNPs (mtSNPs) in fi...
Article
Full-text available
We carried out an admixture analysis of a sample comprising 1,019 individuals from all the provinces of Cuba. We used a panel of 128 autosomal Ancestry Informative Markers (AIMs) to estimate the admixture proportions. We also characterized a number of haplogroup diagnostic markers in the mtDNA and Y-chromosome in order to evaluate admixture using u...
Article
Mitochondrial DNA common variants have been reported to be associated with the development of radiation-induced toxicity. Using a large cohort of patients, we aimed to validate these findings by investigating the potential role of common European mitochondrial DNA SNPs (mtSNPs) to the development of radio-toxicity. Overall acute and late toxicity d...
Article
There has been very little work published on the variation of reporting practices of mixtures between laboratories, but it has been previously demonstrated that there is little consistency. This is because there is no current uniformity of practice, so different laboratories will operate using different rules. The interpretation of mixtures is not...
Article
Previous studies suggest that genetic factors could be involved in mitochondrial dysfunction observed in schizophrenia (SZ), some of them claiming a role of mtDNA common variants (mtSNPs) and/or haplogroups (hgs) in developing this disorder. These studies, however, have mainly been undertaken on relatively small cohorts of patients and control indi...
Data
Table S1. List of samples analyzed in the present study and collected from the literature (American neighboring countries and European ones) used for admixture analysis.
Data
Figure S2. Patterns of haplotype frequencies in Argentinean population samples. Only those samples of sizes > 20 individuals were considered.
Data
Table S2. Haplotype and mtSNP profiles of the Argentinean samples analyzed in the present study.
Data
Figure S1. Simulation aimed to demonstrate that Italy and Spain are sufficiently different in terms of haplotype sharing, therefore, supporting the results of admixture analysis. First, two databases were considered jointly, the Spanish (n = 1467) and the Italian database (n = 1667) (see Additional file 1: Table S1, and text for more information on...
Data
Figure S3. Pairwise FST values (A), and average number of pairwise differences within and between populations and Nei's distances (B).
Article
Full-text available
The genetic background of Argentineans is a mosaic of different continental ancestries. From colonial to present times, the genetic contribution of Europeans and sub-Saharan Africans has superposed to or replaced the indigenous genetic 'stratum'. A sample of 384 individuals representing different Argentinean provinces was collected and genotyped fo...
Data
Gene locations and functional characteristics of all the variants observed in the human glioma mtDNAs. (XLS)
Data
Nucleotide differences between the mtDNA genomes of different mouse strains. (DOC)
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Amplification and sequencing primers used for the mouse samples. (DOC)
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Variants observed on the 11 human glioma mtDNAs sequenced in the present study for the entire genome, their gene locations and functional characteristics. (XLS)
Article
Full-text available
Since Otto Warburg linked mitochondrial physiology and oncogenesis in the 1930s, a number of studies have focused on the analysis of the genetic basis for the presence of aerobic glycolysis in cancer cells. However, little or no evidence exists today to indicate that mtDNA mutations are directly responsible for the initiation of tumor onset. Based...
Data
Table S1. MtDNA control sequences and coding region mtSNP genotypes. Mutations are referred to with respect to the rCRS. Transitions are omitted while transversions are indicated as a suffix. A "+" indicates an insertion whereas "del" refers to a deletion. See text for hg assignation criteria.
Article
Full-text available
There is increasing evidence that impairment of mitochondrial energy metabolism plays an important role in the pathophysiology of autism spectrum disorders (ASD; OMIM number: 209850). A significant proportion of ASD cases display biochemical alterations suggestive of mitochondrial dysfunction and several studies have reported that mutations in the...
Article
The CEPH human genome diversity cell line panel (CEPH-HGDP) of 51 globally distributed populations was used to analyze patterns of variability in 20 core human identification STRs. The markers typed comprised the 15 STRs of Identifiler, one of the most widely used forensic STR multiplexes, plus five recently introduced European Standard Set (ESS) S...
Article
The last few years have experienced an important growth of genomics and its different applications in biomedicine. In part, this has been possible due to the sudden development of the new genotyping technology and ultra-sequencing. The study of the genetic basis of the complex disease has been the main beneficiary of such technological development....
Article
There is a growing interest among forensic geneticists in developing efficient protocols for genotyping coding region mitochondrial DNA (mtDNA) SNPs (mtSNPs). Minisequencing is becoming a popular method for SNP genotyping, but it is still used by few forensic laboratories. In part, this is due to the lack of studies testing its efficiency and repro...
Data
Comparative population frequencies of different haplogroup H (sub)lineages. In bold we collapse frequencies into higher hierarchical phylogenetic clades as a function of the SNPs genotyped in the referred studies, such that only these ‘bolded’ categories are fully comparable between the different studies considered. This is because haplogroup categ...
Data
Autocorrelograms for the most frequent R0 sub-clades observed in North Iberia. (0.12 MB PPT)
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Reconciliation of the nomenclature conflicts in haplogroup R0. (0.14 MB DOC)
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Compendium of the problems related to the nomenclature of the R0 phylogeny and update of the nomenclature. (0.05 MB XLS)
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Genotyping protocols. (0.27 MB DOC)
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Note about the advantages of using minisequencing high throughput SNP genotyping and report of the phylogenetic inconsistencies observed in the data from North Iberia. (0.04 MB DOC)
Data
HVS-I and coding region SNP variation for the Iberian samples analyzed in the present study. (0.71 MB XLS)
Article
Full-text available
R0 embraces the most common mitochondrial DNA (mtDNA) lineage in West Eurasia, namely, haplogroup H (approximately 40%). R0 sub-lineages are badly defined in the control region and therefore, the analysis of diagnostic coding region polymorphisms is needed in order to gain resolution in population and medical studies. We sequenced the first hyperva...
Article
The simple tetrameric STR D9S1120 exhibits a common population-specific allele of 9 repeats (9RA) reported to have an average frequency of 0.36 in Native Americans from both North and South of the continent. Apart from the presence of 9RA in two northeast Siberian populations, D9S1120 shows variability exclusive to, and universal in all American po...
Article
This chapter discusses future challenges in forensic genetics. Often, the nuclear deoxyribonucleic acid (nDNA) obtained from evidential samples is highly degraded or cannot be recovered in sufficient quantity from forensic material. In such circumstances, the recovery and analysis of mitochondrial DNA (mtDNA) molecules can be the only option availa...
Article
We here designed a multiplex minisequencing assay for genotyping 71 coding region SNPs of the mitochondrial DNA (mtDNA) genome targeting the most important phylogenetic branches within R0, where the common haplogroup H and its different sub-clades are nested. We present preliminary results related to frequency patterns in Iberia and its performance...

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