Izar Villasante
A5054639524- Cancer Genomics and Diagnostics
- Genomics and Phylogenetic Studies
- Genomics and Chromatin Dynamics
- Evolution and Genetic Dynamics
- Bioinformatics and Genomic Networks
- Chromosomal and Genetic Variations
- RNA modifications and cancer
- Cancer-related molecular mechanisms research
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Genetic factors in colorectal cancer
- Nutritional Studies and Diet
- Genomic variations and chromosomal abnormalities
- Nutrition, Genetics, and Disease
- Gene expression and cancer classification
- Lung Cancer Treatments and Mutations
- Cancer-related gene regulation
- Mitochondrial Function and Pathology
- Radiomics and Machine Learning in Medical Imaging
- DNA Repair Mechanisms
- Cancer, Hypoxia, and Metabolism
- Telomeres, Telomerase, and Senescence
- RNA Research and Splicing
- Genetics, Bioinformatics, and Biomedical Research
- Diet, Metabolism, and Disease
Josep Carreras Leukaemia Research Institute
2022-2025
Barcelona Supercomputing Center
2020-2023
Universitat Politècnica de Catalunya
2020-2023
Institut d'Investigació Biomédica de Bellvitge
2020-2022
Institut Català d'Oncologia
2020-2022
Hospital de Tortosa Verge de la Cinta
2021
Abstract A key mutational process in cancer is structural variation, which rearrangements delete, amplify or reorder genomic segments that range size from kilobases to whole chromosomes 1–7 . Here we develop methods group, classify and describe somatic variants, using data the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium International Cancer Genome (ICGC) The Atlas (TCGA), aggregated whole-genome sequencing 2,658 cancers across 38 tumour types 8 Sixteen signatures variation...
Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. Recent studies selected types have suggested chromothripsis may be more common than initially inferred from low-resolution copy-number data. Here, as part of the Pan-Cancer Analysis Whole Genomes (PCAWG) Consortium International Cancer Genome (ICGC) The Atlas (TCGA), we analyze patterns across 2,658 tumors 38 using whole-genome sequencing We find...
Chromatin is folded into successive layers to organize linear DNA. Genes within the same topologically associating domains (TADs) demonstrate similar expression and histone-modification profiles, boundaries separating different have important roles in reinforcing stability of these features. Indeed, domain disruptions human cancers can lead misregulation gene expression. However, frequency remains unclear. Here, as part Pan-Cancer Analysis Whole Genomes (PCAWG) Consortium International...
Abstract Cancers require telomere maintenance mechanisms for unlimited replicative potential. They achieve this through TERT activation or alternative lengthening associated with ATRX DAXX loss. Here, as part of the ICGC/TCGA Pan-Cancer Analysis Whole Genomes (PCAWG) Consortium , we dissect whole-genome sequencing data over 2500 matched tumor-control samples from 36 different tumor types aggregated within to characterize genomic footprints these mechanisms. While content tumors mutations...
Introduction The HIV regulatory protein Tat enhances viral transcription and also modifies host gene expression, affecting cell functions like cycle apoptosis. Residual expression of is detected in blood other tissues even under antiretroviral treatment. Cohort studies have indicated that, despite virologic suppression, people with (PWH) are at increased risk comorbidities linked to chronic inflammation, accelerated immune ageing, cellular senescence, sometimes associated abnormal genomic...
Current evidence suggests that egg composition might have potential neuroprotective effects. Our aim was to determine the association between consumption and risk of dementia in a Mediterranean population.This study carried out 3 centers from European Prospective Investigation into Cancer Nutrition (EPIC)-Spain Dementia Cohort, i.e., 25,015 participants aged 30-70 years, recruited 1992-1996, followed up for mean 21.5 years.A total 774 incident cases were diagnosed validated, which 518...
Despite some epidemiological evidence on the protective effects of polyphenol intake epithelial ovarian cancer (EOC) risk from case-control studies, is scarce prospective studies and non-existent for several classes. Therefore, we aimed to investigate associations between total, classes subclasses polyphenols EOC in a large study. The study was conducted European Prospective Investigation into Cancer Nutrition (EPIC) cohort, which included 309,129 adult women recruited mostly general...
High-throughput genomic technologies are increasingly used in personalized cancer medicine. However, computational tools to maximize the use of scarce tissues combining distinct molecular layers needed. Here we present a refined strategy, based on R-package 'conumee', better predict somatic copy number alterations (SCNA) from deoxyribonucleic acid (DNA) methylation arrays. Our approach, termed hereafter as 'conumee-KCN', improves SCNA prediction by incorporating tumor purity and dynamic...