Recent Submissions
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Interferon-stimulated gene expression in HIV-1 inoculated macrophages and healthy Langerhans cells: The impact of macrophage polarization and Langerhans cell maturation
(2024-09-30)Abstract Background: Antigen presenting cells (APCs) have been extensively studied for their role in human immunodeficiency virus type 1 (HIV-1) infection. HIV-1 is readily recognized by APCs, which ... -
Genetic risk factors associated with ischemic stroke and etiological subtypes
(2024-09-30)Abstract Background: Ischemic stroke is a multifactorial pathology caused by an interruption of the blood flow to the brain, causing the brain not to receive oxygen and nutrients. Although research has ... -
Hybrid approach to classify pediatric cases with acute myeloid leukemia
(2024-09-10)Pediatric acute myeloid leukemia (AML) is a rare heterogeneous disease with an unfavorable prognosis. It is characterized by a high risk of relapse, which higlights the importance of accurately identifying ... -
Single-cell transcriptomics reveals key cell types, pathways and targets in skin tissue associated with HS and PPP
(2024-09-30)Abstract Motivation: The skin is of paramount importance to human health and well-being due to its multifaceted roles such as biophysical and immunological protection through a complex cellular network ... -
Population structure and spatial distribution of mycobacterium tuberculosis in Catalonia
(2024-09-01)Abstract Motivation: Even though Catalonia is a low-incidence area for tuberculosis (TB) transmission, high migration flow can make it a focal point for various Mycobacterium tuberculosis complex (MTBC) ... -
The role of genetic ancestry in Alzheimer’s disease: Comparative methodology, framework development and genome-wide association analysis
(2024-09-10)Understanding the role of genetic ancestry in Alzheimer's disease (AD) is crucial for uncovering the complexities of this neurodegenerative disorder. While most studies account for global ancestry, ... -
Human proteome-wide characterization of highly mutated regions presented by HLA class I
(2024-09-10)Tumor evolution is influenced by the interaction between cancer cells and the patient’s adaptive immune system, which shapes the tumor growth and the landscape of observed somatic variants. However, ... -
Multiomic profiling of circulating hepatocyte-derived extracellular vesicles for hepatocellular carcinoma detection in liver cirrhosis
(2024-09-01)Motivation: Liver cirrhosis is the primary risk factor for hepatocellular carcinoma (HCC), with current surveillance tests often failing to detect the disease during its curative stages. Extracellular ... -
Omic Insights to Decipher the Role of Subcutaneous White Adipose Tissue in Metabolic-Dysfunction Associated Steatotic Liver Disease (MASLD)
(2024-09-01)Metabolic-dysfunction associated steatotic liver disease (MASLD), formerly NAFLD, is a major liver condition linked to obesity, affecting around 30% of adults globally. Steatosis, the earliest stage ... -
Rna sequencing role in the genetic diagnosis of hereditary breast and ovarian cancer
(2024-09-10)Hereditary breast and ovarian cancer (HBOC) is a syndrome defined by an increased risk of developing breast cancer (BC) and/or ovarian cancer (OC), mainly due to germline pathogenic variants in BRCA1 ... -
SVModeler: Simulation of human haplotypes containing synthetic structural variants
(2024-09-19)Abstract Motivation: Long-read sequencing overcomes the limits of short-reads by providing longer sequences that can span repetitive regions, improving the detection of structural variants and accurately ... -
Cell compartment isoform expression analysis using long-read transcriptomics
(2023-09-01)Motivation: Alternative splicing, a crucial post-transcriptional process, enhances proteomic diversity without increasing gene numbers, playing pivotal roles in gene regulation, specialization, and ... -
Host epigenetic changes to Salmonella Paratyphi exposure
(2023-09-10)Motivation: Typhoid fever, resulting from Salmonella enterica serovars Typhi and Paratyphi A, stands as a significant contributor to illness and mortality. Recent challenge studies on the host immunity ... -
Unveiling distinct features of long-term benefit in metastatic NSCLC patients undergoing immune checkpoint blockade
(2023-09-01)Introduction: Immunotherapy is firmly established as a treatment regimen in various solid tumors, driven by its exceptional benefits observed in a select group of patients. Despite widespread use of ... -
Transcriptomic analysis of BRCA1 and BRCA2 carriers
(2023-09-01)Most frequently mutations that lead to the development of breast and ovarian cancer are BRCA1 and BRCA2. Blood samples from BRCA1, BRCA2 and non-mutation carriers were extracted for both healthy and ... -
Lipid metabolism as a therapeutic vulnerability in medulloblastoma
(2023-09-01)Medulloblastoma (MB) is the most common malignant brain tumor in children and presents a varied prognosis, with some patients succumbing to the disease and survivors presenting neurotoxic sequelae from ... -
HRAS physical feature analysis: Predicting protein activation through a random forest classifier
(2023-09-10)Over the past decade, increased computational capabilities have enabled us to address biological questions using data-driven methods, particularly where traditional techniques have been limiting. We ... -
A CITE-seq analytical pipeline for the identification and molecular characterisation of dual targeting CAR T-cell products
(2023-09-01)The clinical application of T-cells genetically engineered to express a chimeric antigen receptor (CAR) targeting CD19 is challenged by CD19 negative relapse in B-cell acute lymphoblastic leukaemia (B-ALL). ... -
Benchmark of different library-free DIA strategies
(2023-09-10)Abstract Motivation: Proteomics is advancing rapidly and testing and comparing recently published mass spectrometry acquisition and data analysis methods is the best way to keep up with the advances as ... -
Machine learning-based gene expression signature for classification of endocrine therapy sensitivity in ER+ breast cancer patients
(2023-09-10)Abstract: Endocrine therapy (ET) combined with cyclin-dependent kinase 4/6 inhibitors (CDK4/6i) is the standard treatment for metastatic estrogen receptor-positive (ER+) breast cancer. However, not all ...