Marina Álvarez-Estapé
A5051088428- Primate Behavior and Ecology
- Genomics and Phylogenetic Studies
- RNA and protein synthesis mechanisms
- Wildlife Ecology and Conservation
- Pleistocene-Era Hominins and Archaeology
- Genetic diversity and population structure
- Chromosomal and Genetic Variations
- Yersinia bacterium, plague, ectoparasites research
- Molecular Biology Techniques and Applications
- Plant Pathogens and Fungal Diseases
- RNA Research and Splicing
- RNA modifications and cancer
- Animal Behavior and Reproduction
- Forensic and Genetic Research
- Genetic Mapping and Diversity in Plants and Animals
- Animal Diversity and Health Studies
- Bacillus and Francisella bacterial research
- Bacterial Identification and Susceptibility Testing
- Genetic and phenotypic traits in livestock
- Medical Coding and Health Information
- Artificial Intelligence in Healthcare and Education
- Genomics and Rare Diseases
- Identification and Quantification in Food
- Environmental DNA in Biodiversity Studies
Institut de Biologia Evolutiva
2018-2025
Institut de Recerca Sant Joan de Déu
2024
Hospital Sant Joan de Déu Barcelona
2024
University of California, Davis
2024
Universitat Pompeu Fabra
2018-2022
How populations adapt to their environment is a fundamental question in biology. Yet, we know surprisingly little about this process, especially for endangered species, such as nonhuman great apes. Chimpanzees, our closest living relatives, are particularly notable because they inhabit diverse habitats, from rainforest woodland-savannah. Whether genetic adaptation facilitates habitat diversity remains unknown, despite it having wide implications evolutionary biology and conservation. By...
Abstract Mammalian Y chromosomes are often neglected from genomic analysis. Due to their inherent assembly difficulties, high repeat content, and large ampliconic regions, only a handful of species have chromosome properly characterized. To date, just single human reference quality chromosome, European ancestry, is available due lack accessible methodology. facilitate the such complicated territory, we developed novel strategy sequence native, unamplified flow sorted DNA on MinION nanopore...
Knowledge on the population history of endangered species is critical for conservation, but whole-genome data chimpanzees (Pan troglodytes) geographically sparse. Here, we produced first non-invasive geolocalized catalog genomic diversity by capturing chromosome 21 from 828 samples collected at 48 sampling sites across Africa. The four recognized subspecies show clear genetic differentiation correlating with known barriers, while previously undescribed exchange suggests that these have been...
Abstract Archaic admixture has had a substantial impact on human evolution with multiple events across different clades, including from extinct hominins such as Neanderthals and Denisovans into modern humans. In great apes, archaic been identified in chimpanzees bonobos but the possibility of not explored other species. Here, we address this question using high-coverage whole-genome sequences all four extant gorilla subspecies, six newly sequenced eastern gorillas previously unsampled...
The French revolutionary Jean-Paul Marat (1743–1793) was assassinated in 1793 his bathtub, where he trying to find relief from the debilitating skin disease suffering from. At time of death, annotating newspapers, which got stained with blood and were subsequently preserved by sister. We extracted sequenced DNA stain also another section newspaper, we used for comparison. Results human sequence analyses compatible a heterogeneous ancestry Marat, mother being origin father born Sardinia....
Abstract Noninvasive samples as a source of DNA are gaining interest in genomic studies endangered species. However, their complex nature and low endogenous content hamper the recovery good quality data. Target capture has become productive method to enrich fraction noninvasive samples, such faeces, but its sensitivity not yet been extensively studied. Coping with faecal an below 1% is common problem when prior selection from large collection possible. classified unfavourable for target...
Abstract How populations adapt to their environment is a fundamental question in biology. Yet we know surprisingly little about this process, especially for endangered species such as non-human great apes. Chimpanzees, our closest living relatives, are particularly interesting because they inhabit diverse habitats, from rainforest woodland-savannah. Whether genetic adaptation facilitates habitat diversity remains unknown, despite having wide implications evolutionary biology and...
Transcriptomic diversity greatly contributes to the fundamentals of disease, lineage-specific biology, and environmental adaptation. However, much actual isoform repertoire contributing shaping primate evolution remains unknown. Here, we combined deep long- short-read sequencing complemented with mass spectrometry proteomics in a panel lymphoblastoid cell lines (LCLs) from human, three other great apes, rhesus macaque, producing largest full-length catalog primates date. Around half captured...
The critically endangered western gorillas (
Abstract Importance The time to accurately diagnose rare pediatric diseases often spans years. Assessing the diagnostic accuracy of an LLM-based tool on real cases can help reduce this time, providing quicker diagnoses for patients and their families. Objective To evaluate clinical utility DxGPT as a support differential diagnosis both common diseases. Design Unicentric descriptive cross-sectional exploratory study. Anonymized data from 50 patients’ medical histories, covering pathologies,...
Modern human contamination is a common problem in ancient DNA studies. We provide evidence that this issue also present studies great apes, which are our closest living relatives, for example noninvasive samples. Here, we simple method to detect short-read sequencing data from different species: HuConTest. demonstrate its feasibility using blood and tissue samples these species. This test particularly useful more complex (such as museum samples) have smaller amounts of endogenous DNA, show here.
Captive breeding programmes represent the most intensive type of ex situ population management for threatened species. One example is Cuvier's gazelle programme that started in 1975 with only four founding individuals, and after more than decades captivity, a reintroduction effort was undertaken Tunisia 2016, to establish an area historically included within its range. Here, we aim determine genetic consequences this event by assessing diversity founder stock as well their descendants. We...
Mammalian Y chromosomes are often neglected from genomic analysis. Due to their inherent assembly difficulties, high repeat content, and large ampliconic regions 1 , only a handful of species have chromosome properly characterized. To date, just single human reference quality chromosome, European ancestry, is available due lack accessible methodology 2–5 . facilitate the such complicated territory, we developed novel strategy sequence native, unamplified flow sorted DNA on MinION nanopore...
Abstract The French revolutionary Jean-Paul Marat (1743-1793) was assassinated in 1793 his bathtub, where he trying to find relief from the debilitating skin disease suffering from. At time of death, annotating newspapers, which got stained with blood and were subsequently preserved by sister. We extracted sequenced DNA stain also another section newspaper, we used for comparison. Results human sequence analyses compatible a heterogeneous ancestry Marat, mother being origin father born...
Abstract Archaic admixture has had a significant impact on human evolution with multiple events across different clades, including from extinct hominins such as Neanderthals and Denisovans into modern humans. Within the great apes archaic been identified in chimpanzees bonobos, but possibility of not explored other species. Here, we address this question using high-coverage whole genome sequences all four extant gorilla subspecies, six newly sequenced eastern gorillas previously unsampled...
Abstract Modern human contamination is a common problem in ancient DNA studies. We provide evidence that this issue also present studies great apes, which are our closest living relatives, for example non-invasive samples. Here, we simple method to detect short read sequencing data from different species. demonstrate its feasibility using blood and tissue samples these This test particularly useful more complex (such as museum samples) have smaller amounts of endogenous DNA, show here....
Abstract Transcriptomic diversity greatly contributes to the fundamentals of disease, lineage-specific biology, and environmental adaptation. However, much actual isoform repertoire contributing shaping primate evolution remains unknown. Here, we combined deep long- short-read sequencing complemented with mass spectrometry proteomics in a panel lymphoblastoid cell lines (LCLs) from human, three other great apes, rhesus macaque, producing largest full-length catalog primates date. Our...