41 research outputs found

    Aspectos éticos de los bancos de datos de DNA de interés policial

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    El primer banco de datos policial basado en perfiles genéticos de DNA se introdujo en el Reino Unido en 1995. La identificación de posibles sospechosos se realiza por la comparación directa de un perfil genético recuperado del lugar de los hechos con otro almacenado en un banco dedatos. Desde un principio se ha demostrado que dichos bancos de DNA son una herramienta de investigación policial poderosa, pero que presenta diversos problemas éticos. Posteriormente se fue más allá buscando coincidencias parciales, que podrían indicar un vínculo familiar entre un perfil genético almacenado y otro obtenido en el lugar de los hechos. Este procedimiento genera un elevado número de sospechosos potenciales entre personas ajenas al caso que se investiga. Recientemente la búsqueda policial basada en el DNA ha penetrado en bancos de datos de interés no criminal, sino destinados a estimar el origen étnico de personas o descubrir familiares lejanos. Este tipo de búsquedas ha suscitado la posibilidad de generar un banco de datos universal de DNA, donde toda la población estuviese incluida. Estos y otros aspectos bioéticos respecto a la información basada en el DNA y a su acceso son tratados en el presente artículo

    Long Non-Coding RNAs As Potential Novel Prognostic Biomarkers in Colorectal Cancer

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    Colorectal cancer (CRC) is the fourth most common cause of death worldwide. Surgery is usually the first line of treatment for patients with CRC but many tumors with similar histopathological features show significantly different clinical outcomes. The discovery of robust prognostic biomarkers in patients with CRC is imperative to achieve more effective treatment strategies and improve patient's care. Recent progress in next generation sequencing methods and transcriptome analysis has revealed that a much larger part of the genome is transcribed into RNA than previously assumed. Collectively referred to as non-coding RNAs (ncRNAs), some of these RNA molecules such as microRNAs (miRNAs) and long non-coding RNAs (lncRNAs) have been shown to be altered and to play critical roles in tumor biology. This discovery leads to exciting possibilities for personalized cancer diagnosis, and therapy. Many lncRNAs are tissue and cancer-type specific and have already revealed to be useful as prognostic markers. In this review, we focus on recent findings concerning aberrant expression of lncRNAs in CRC tumors and emphasize their prognostic potential in CRC. Further studies focused on the mechanisms of action of lncRNAs will contribute to the development of novel biomarkers for diagnosis and disease progression

    Determining population structure among Argentinian jaguars (Panthera onca)

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    The jaguar (Panthera onca) is the largest felid in America and the most emblematic South American predator. This carnivore species holds a high environmental importance in all ecosystems it inhabits for its apex predator role. Jaguar populations have suffered an important decline over the last century and today this species is considered as critically endangered in Argentina. Ensuring the sustainability of theremaining jaguar populations demands a high degree of knowledge about the current state of their genetic variability levels and a description of population structure is essential, especially to allow rational translocation and reintroduction actions. The first jaguar reference genome was released in2017 (Figueiro et al. 2017) by the Jaguar Genome Project, a consortium we integrate.With the aim of generating useful resources and information for the jaguar genetics and conservation from the genomic perspective, we carried out the whole genome sequencing of 9 jaguar samples using Illumina 2500 NSG technology. Here we present the first results obtained from these 9 genomescompared to the reference. We performed a population structure analysis in order to estimate the optimal number of populations present in our data and a Multiple Correspondece Analysis (MCA) clustering of our samples based on over 280.000 homozygous variable positions in their genomes. Theestimation of the optimal number of populations present among our samples resulted in 6, according to the Structure analysis. However, the MCA clustering analysis only revealed 5 groups of individuals. The main genetic cluster of animal obtained is integrated by captive animals from zoos and natural reserves and surprisingly a Paraguayan male. Apart from this central group, a wild Argentinian sample from Misiones (a province in the north-east of the country) was located. Also, an animal of Uruguayan origin and the reference, built from a Brazilian animal, located in individual clusters.More work including heterozygous variable position analysis will be performed to better describe the genetic variability among the sequenced jaguar genomes and accurately describe the current genetic situation and population structure of this species in Argentinian territory.Fil: Pisciottano, Francisco. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; ArgentinaFil: Tarifa Reischle, Inti Carlos. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; ArgentinaFil: Pegueroles Queralt, Cinta. Centro de Regulación Genómica; España. Universitat Pompeu Fabra; EspañaFil: Willis, Jesse R.. Centro de Regulación Genómica; EspañaFil: Julca Chavez, Irene Consuelo. Centro de Regulación Genómica; España. Universitat Pompeu Fabra; EspañaFil: Gabaldón, Toni. Centro de Regulación Genómica; España. Institució Catalana de Recerca i Estudis Avançats ; EspañaFil: Saragueta, Patricia Esther. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales. Departamento de Química Biológica; ArgentinaExploring Genomic Landscapes EMBO WorkshopSan Pedro de AtacamaChileEMBOCenter for Genomic Regulatio

    The era of reference genomes in conservation genomics

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    Progress in genome sequencing now enables the large-scale generation of reference genomes. Various international initiatives aim to generate reference genomes representing global biodiversity. These genomes provide unique insights into genomic diversity and architecture, thereby enabling comprehensive analyses of population and functional genomics, and are expected to revolutionize conservation genomics

    Analysis of the P. lividus sea urchin genome highlights contrasting trends of genomic and regulatory evolution in deuterostomes

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    Sea urchins are emblematic models in developmental biology and display several characteristics that set them apart from other deuterostomes. To uncover the genomic cues that may underlie these specificities, we generated a chromosome-scale genome assembly for the sea urchin Paracentrotus lividus and an extensive gene expression and epigenetic profiles of its embryonic development. We found that, unlike vertebrates, sea urchins retained ancestral chromosomal linkages but underwent very fast intrachromosomal gene order mixing. We identified a burst of gene duplication in the echinoid lineage and showed that some of these expanded genes have been recruited in novel structures (water vascular system, Aristotle's lantern, and skeletogenic micromere lineage). Finally, we identified gene-regulatory modules conserved between sea urchins and chordates. Our results suggest that gene-regulatory networks controlling development can be conserved despite extensive gene order rearrangement

    How genomics can help biodiversity conservation

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    The availability of public genomic resources can greatly assist biodiversity assessment, conservation, and restoration efforts by providing evidence for scientifically informed management decisions. Here we survey the main approaches and applications in biodiversity and conservation genomics, considering practical factors, such as cost, time, prerequisite skills, and current shortcomings of applications. Most approaches perform best in combination with reference genomes from the target species or closely related species. We review case studies to illustrate how reference genomes can facilitate biodiversity research and conservation across the tree of life. We conclude that the time is ripe to view reference genomes as fundamental resources and to integrate their use as a best practice in conservation genomics.info:eu-repo/semantics/publishedVersio

    The era of reference genomes in conservation genomics

    Get PDF
    Progress in genome sequencing now enables the large-scale generation of reference genomes. Various international initiatives aim to generate reference genomes representing global biodiversity. These genomes provide unique insights into genomic diversity and architecture, thereby enabling comprehensive analyses of population and functional genomics, and are expected to revolutionize conservation genomics

    The era of reference genomes in conservation genomics

    Get PDF
    Progress in genome sequencing now enables the large-scale generation of reference genomes. Various international initiatives aim to generate reference genomes representing global biodiversity. These genomes provide unique insights into genomic diversity and architecture, thereby enabling comprehensive analyses of population and functional genomics, and are expected to revolutionize conservation genomics

    The era of reference genomes in conservation genomics

    Get PDF
    info:eu-repo/semantics/publishedVersio

    How genomics can help biodiversity conservation

    Get PDF
    The availability of public genomic resources can greatly assist biodiversity assessment, conservation, and restoration efforts by providing evidence for scientifically informed management decisions. Here we survey the main approaches and applications in biodiversity and conservation genomics, considering practical factors, such as cost, time, prerequisite skills, and current shortcomings of applications. Most approaches perform best in combination with reference genomes from the target species or closely related species. We review case studies to illustrate how reference genomes can facilitate biodiversity research and conservation across the tree of life. We conclude that the time is ripe to view reference genomes as fundamental resources and to integrate their use as a best practice in conservation genomics
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