Coleção de Artigos Acadêmicos

URI permanente para esta coleçãohttps://repositorio.insper.edu.br/handle/11224/3227

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    Artigo Científico
    Identification of alterations associated with age in the clustering structure of functional brain networks
    (2018) Guzman, Grover E. C.; Sato, Joao R.; MACIEL CALEBE VIDAL; Fujita, Andre
    Initial studies using resting-state functional magnetic resonance imaging on the trajectories of the brain network from childhood to adulthood found evidence of functional integration and segregation over time. The comprehension of how healthy individuals’ functional integration and segregation occur is crucial to enhance our understanding of possible deviations that may lead to brain disorders. Recent approaches have focused on the framework wherein the functional brain network is organized into spatially distributed modules that have been associated with specific cognitive functions. Here, we tested the hypothesis that the clustering structure of brain networks evolves during development. To address this hypothesis, we defined a measure of how well a brain region is clustered (network fitness index), and developed a method to evaluate its association with age. Then, we applied this method to a functional magnetic resonance imaging data set composed of 397 males under 31 years of age collected as part of the Autism Brain Imaging Data Exchange Consortium. As results, we identified two brain regions for which the clustering change over time, namely, the left middle temporal gyrus and the left putamen. Since the network fitness index is associated with both integration and segregation, our finding suggests that the identified brain region plays a role in the development of brain systems.
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    The status of the human gene catalogue
    (2023) PAULO DE PAIVA ROSA AMARAL; Carbonell-Sala, Silvia; De La Vega, Francisco M.; Faial, Tiago; Frankish, Adam; Gingeras, Thomas; Guigo, Roderic; Harrow, Jennifer L.; Hatzigeorgiou, Artemis G.; Johnson, Rory; Murphy, Terence D.; Pertea, Mihaela; Pruitt, Kim D.; Pujar, Shashikant; Takahashi, Hazuki; Ulitsky, Igor; Varabyou, Ales; Wells, Christine A.; Yandell, Mark; Carninci, Piero; Salzberg, Steven L.
    Scientists have been trying to identify every gene in the human genome since the initial draft was published in 2001. In the years since, much progress has been made in identifying protein-coding genes, currently estimated to number fewer than 20,000, with an ever-expanding number of distinct protein-coding isoforms. Here we review the status of the human gene catalogue and the efforts to complete it in recent years. Beside the ongoing annotation of protein-coding genes, their isoforms and pseudogenes, the invention of high-throughput RNA sequencing and other technological breakthroughs have led to a rapid growth in the number of reported non-coding RNA genes. For most of these non-coding RNAs, the functional relevance is currently unclear; we look at recent advances that offer paths forward to identifying their functions and towards eventually completing the human gene catalogue. Finally, we examine the need for a universal annotation standard that includes all medically significant genes and maintains their relationships with different reference genomes for the use of the human gene catalogue in clinical settings.