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Single-cell RNA-sequencing (scRNA-seq) technology brought about a revolutionary change in the transcriptomic world, paving the way for comprehensive analysis of cellular heterogeneity in complex biological sys...
Inflammatory bowel disease (IBD) is a group of chronic inflammatory disorders, including ulcerative colitis (UC) and Crohn’s disease, affecting the gastrointestinal tract and is associated with high morbidity ...
Deep vein thrombosis (DVT) is a clinically significant condition characterized by the formation of thrombi in deep venous structures, leading to high morbidity and potential mortality. Identifying reliable bio...
Gene network models provide a foundation for graph theory approaches, aiding in the novel discovery of drug targets, disease genes, and genetic mechanisms for various biological functions. Disease genetics mus...
Large-scale national biobank projects utilizing whole-genome sequencing have emerged as transformative resources for understanding human genetic variation and its relationship to health and disease. These init...
Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease prevalent in American and European populations, with its onset and progression significantly influenced by mutations in the superoxide di...
The diversity of T-cell receptors (TCRs) and B-cell receptors (BCRs) underpins the adaptive immune system’s ability to recognize and respond to a wide array of antigens. Recent advancements in RNA sequencing h...
The genomic architecture of eukaryotes exhibits dynamic spatial and temporal changes, enabling cellular processes critical for maintaining viability and functional diversity. Recent advances in sequencing tech...
Angiogenesis, the formation of new blood vessels from preexisting ones, is essential for normal development, wound healing, and tissue repair. However, dysregulated angiogenesis is implicated in various pathol...
This paper evaluates and compares different fine-tuned variations of generative large language models (LLM) in the zero-shot named entity recognition (NER) task for the clinical domain. As part of the 8th Biom...
Understanding the progression and recovery process of COVID-19 is crucial for guiding public health strategies and developing targeted interventions. This longitudinal cohort study aims to elucidate the dynami...
Hepatocellular carcinoma (HCC) is one of the most common types of primary liver cancer and remains a leading cause of cancer-related deaths worldwide. While traditional approaches like surgical resection and t...
Cells interact with each other for proper function and homeostasis. Often, co-expression of ligand-receptor pairs from the single-cell RNAseq (scRNAseq) has been used to identify interacting cell types. Recent...
In protein identification, researchers increasingly aim to achieve efficient classification using fewer features. While many feature selection methods effectively reduce the number of model features, they ofte...
Rare diseases, though individually uncommon, collectively affect millions worldwide. Genomic technologies and big data analytics have revolutionized diagnosing and understanding these conditions. This review e...
Hearing loss is the most common sensory disorder. Genetic factors contribute substantially to this condition, although allelic heterogeneity and variable expressivity make a definite molecular diagnosis challe...
Vibrio vulnificus, a gram-negative pathogenic bacterium, transmitted via undercooked seafood or contaminated seawater, causes septicemia and wound infections. In this study, we analyzed 15 clinical and 11 environ...
The untranslated regions (UTRs) of genes significantly impact various biological processes, including transcription, posttranscriptional control, mRNA stability, localization, and translation efficiency. In fu...
Neuromuscular diseases (NMDs) are a group of rare disorders characterized by significant genetic and clinical complexity. Advances in genomics have revolutionized both the diagnosis and treatment of NMDs. Whil...
The Human Phenotype Ontology (HPO) is widely used for annotating clinical text data, and sufficient annotation is crucial for the effective utilization of clinical texts. It was known that the use of LLMs can ...
The paper presents Anatomy3DExplorer, a customized ChatGPT designed as a natural language dialogue interface for exploring 3D models of anatomical structures. It illustrates the significant potential of large lan...
Electronic phenotyping involves a detailed analysis of both structured and unstructured data, employing rule-based methods, machine learning, natural language processing, and hybrid approaches. Currently, the ...
The extraction of biological regulation events has been a key focus in the field of biomedical nature language processing (BioNLP). However, existing methods often encounter challenges such as cascading errors...
Rapidly increasing the amount of short-read data generated by NGSs (new-generation sequencers) calls for the development of fast and accurate read alignment programs. The programs based on the hash table (BLAS...
Advancements in sequencing technology have significantly enhanced diagnostic capabilities for rare neurological diseases. This progress in molecular diagnostics can greatly impact clinical management and facil...
This report presents the findings of a project from the 8th Biomedical Linked Annotation Hackathon (BLAH) to explore lightweight technology stacks to enhance assistive linked annotations. Using modern JavaScri...
To what degree a string of symbols can be compressed reveals important details about its complexity. For instance, strings that are not compressible are random and carry a low information potential while the o...
Many subtypes of SARS-CoV-2 have emerged since its early stages, with mutations showing regional and racial differences. These mutations significantly affected the infectivity and severity of the virus. This s...
The molecular characterization of genetically modified organisms (GMOs) is essential for ensuring safety and gaining regulatory approval for commercialization. According to CODEX standards, this characterizati...
Antibiotic resistance poses a pressing and crucial global public health challenge, leading to significant clinical and health-related consequences. Substantial evidence highlights the pivotal involvement of ri...
Over hundreds of years, cats have been domesticated and selectively bred, resulting in numerous pedigreed breeds expedited by recent cat shows and breeding associations. Concerns have been raised about the lim...
Variable surface antigens (VSAs) encoded by var and vir genes in Plasmodium falciparum and Plasmodium vivax, respectively, are known to be involved in malaria pathogenesis and host immune escape through antigenic...
Autoimmune disorders (ADs) are chronic conditions resulting from failure or breakdown of immunological tolerance, resulting in the host immune system attacking its cells or tissues. Recent studies report share...
Cervical cancer (CxCa) stands as a significant global health challenge, ranking fourth in cancer-related mortality among the female population. While chemotherapy regimens have demonstrated incremental progres...
Though genes are already known to be responsible for type 1 diabetes mellitus (T1DM), the knowledge of missense mutation of that disease gene has still to be under covered. A genomic database and a bioinformat...
This study evaluated large language models (LLMs), particularly the GPT-4 with vision (GPT-4 V) and GPT-4 Turbo, for annotating biomedical figures, focusing on cellular senescence. We assessed the ability of L...
Here, we investigated that the heat shock protein 47 (HSP47) plays a crucial role in the progression of gastric cancer (GC). We analyzed HSP47 gene expression in GC cell lines and patient tissues. The HSP47 mR...
During the third year of the pandemic in Peru, the persistent transmission of SARS-CoV-2 led to the appearance of more transmissible and immune-evasive Omicron sublineages; in that context, the National Genomi...
Tumor suppressor cylindromatosis protein (CYLD) regulates NF-κB and JNK signaling pathways by cleaving K63-linked poly-ubiquitin chain from its substrate molecules and thus preventing the progression of tumori...
Caenorhabditis elegans (C. elegans) is a nematode and model organism whose entire genome has been mapped, which allows for easy observation of the organism’s development due to its transparent structure, and whic...
Small auxin-up RNA (SAUR) proteins were known as a large family that supposedly participated in various biological processes in higher plant species. However, the SAUR family has been still not explored in cac...
The goal of the study was to investigate the changes in the gut microbiota during the advancement of gastric cancer (GC) and identify pertinent taxa associated with the disease. We used a public fecal amplicon...