相关论文: Primate specific retrotransposons, SVAs, in the ev…
Background: Transposed elements (TEs) have a substantial impact on mammalian evolution and are involved in numerous genetic diseases. We compared the impact of TEs on the human transcriptome and the mouse transcriptome. Results: We compiled…
Insertion of transposed elements within mammalian genes is thought to be an important contributor to mammalian evolution and speciation. Insertion of transposed elements into introns can lead to their activation as alternatively spliced…
Examination of the human transcriptome reveals higher levels of RNA editing than in any other organism tested to date. This is indicative of extensive double-stranded RNA (dsRNA) formation within the human transcriptome. Most of the editing…
Discoveries of endogenous human stem cell-associated retroviruses (SCARs) revealed consistent activation of specific endogenous retroviral elements in human preimplantation embryos and documented the essential role of the sustained…
Asynchronous replication of the genome has been associated with different rates of point mutation and copy number variation (CNV) in human populations. Here, we explored if the bias in the generation of CNV that is associated to DNA…
Variational Autoencoders (VAEs) are a popular framework for unsupervised learning and data generation. A plethora of methods have been proposed focusing on improving VAEs, with the incorporation of adversarial objectives and the integration…
Mapping of human brain structural connectomes via diffusion MRI offers a unique opportunity to understand brain structural connectivity and relate it to various human traits, such as cognition. However, head displacement during image…
Background: Structural Variations, SVs, in a genome can be linked to a disease or characteristic phenotype. The variations come in many types and it is a challenge, not only determining the variations accurately, but also conducting the…
Background: Transposable elements (TEs) have played an important role in the diversification and enrichment of mammalian transcriptomes through various mechanisms such as exonization and intronization (the birth of new exons/introns from…
Influenza virus contains two highly variable envelope glycoproteins, hemagglutinin (HA) and neuraminidase (NA). The structure and properties of HA, which is responsible for binding the virus to the cell that is being infected, change…
Influenza virus contains two highly variable envelope glycoproteins, hemagglutinin (HA) and neuraminidase (NA). The structure and properties of HA, which is responsible for binding the virus to the cell that is being infected, change…
The results of applying neural replicator analysis (NRA) to the genomes of viruses belonging to the genus Flavivirus are presented. It is shown that the viral genomes considered in this study can be placed in five different cells of the…
The ABO histo-blood group, the critical determinant of transfusion incompatibility, was the first genetic polymorphism discovered in humans. Remarkably, ABO antigens are also polymorphic in many other primates, with the same two amino acid…
Von Economo neurons (VENs) are selectively lost in behavioural-variant frontotemporal dementia (bvFTD) and reduced in autism spectrum conditions (ASC), yet their computational role in social learning remains unexplained. We train a spiking…
Two distinct families of pan-primate endogenous retroviruses, namely HERVL and HERVH, infected primates germline, colonized host genomes, and evolved into the global retroviral genomic regulatory dominion (GRD) operating during human…
Recently, transformers have shown great potential in image classification and established state-of-the-art results on the ImageNet benchmark. However, compared to CNNs, transformers converge slowly and are prone to overfitting in low-data…
SCN2A encodes the alpha subunit of the voltage-gated sodium channel Nav1.2, which is involved in action potential initiation and backpropagation in glutamatergic neurons. Mutations in the gene lead to SCN2A-related disorders, which are…
Vision Transformers (ViT)s have shown great performance in self-supervised learning of global and local representations that can be transferred to downstream applications. Inspired by these results, we introduce a novel self-supervised…
Thousands of candidate human-specific regulatory sequences (HSRS) have been identified, supporting the hypothesis that unique to human phenotypes result from human-specific alterations of genomic regulatory networks. Here, conservation…
While many neuroscience questions aim to understand the human brain, much current knowledge has been gained using animal models, which replicate genetic, structural, and connectivity aspects of the human brain. While voxel-based analysis…