Rafael Valdés‐Mas
A5081460259- Cancer Genomics and Diagnostics
- Chronic Lymphocytic Leukemia Research
- Genetic factors in colorectal cancer
- Multiple Myeloma Research and Treatments
- Gut microbiota and health
- Lymphoma Diagnosis and Treatment
- DNA Repair Mechanisms
- Immunodeficiency and Autoimmune Disorders
- Epigenetics and DNA Methylation
- Glycosylation and Glycoproteins Research
- RNA modifications and cancer
- Genomics and Rare Diseases
- PI3K/AKT/mTOR signaling in cancer
- Diet and metabolism studies
- Acute Myeloid Leukemia Research
- Nutrition, Genetics, and Disease
- Viral gastroenteritis research and epidemiology
- Tensor decomposition and applications
- Dietary Effects on Health
- Bacteriophages and microbial interactions
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Plant Virus Research Studies
- Nutritional Studies and Diet
- Genetics and Neurodevelopmental Disorders
- Acute Lymphoblastic Leukemia research
Weizmann Institute of Science
2020-2025
Universidad de Oviedo
2012-2020
Centro de Investigación Biomédica en Red de Cáncer
2018
Instituto de Investigación Sanitaria del Principado de Asturias
2013-2015
Significance This is a comprehensive whole-genome/whole-exome analysis of mantle cell lymphoma (MCL). We sequenced 29 MCL cases and validated the findings by target sequencing 172 additional tumors. identified recurrent mutations in genes regulating chromatin modification such as NOTCH2 that have major impact on clinical outcome. Additionally, we demonstrated subclonal heterogeneity tumors already at diagnosis modulation mutational architecture progression disease. The identification new...
Abstract As whole-genome sequencing for cancer genome analysis becomes a clinical tool, full understanding of the variables affecting output is required. Here using tumour-normal sample pairs from two different types cancer, chronic lymphocytic leukaemia and medulloblastoma, we conduct benchmarking exercise within context International Cancer Genome Consortium. We compare methods, pipelines validation methods. show that PCR-free methods increasing depth to ∼100 × shows benefits, as long...
Abstract Antimicrobial resistance poses a substantial threat to human health. The gut microbiome is considered reservoir for potential spread of genes from commensals pathogens, termed the resistome. impact probiotics, commonly consumed by many in health or conjunction with administration antibiotics, on resistome elusive. Reanalysis metagenomes healthy antibiotics-naïve humans supplemented an 11-probiotic-strain preparation, allowing direct assessment situ along gastrointestinal (GI) tract,...
Identification of genes associated with hereditary cancers facilitates management patients family histories cancer. We performed exome sequencing DNA from 3 individuals a colorectal cancer who met the Amsterdam criteria for risk nonpolyposis These had mismatch repair-proficient tumors and each carried nonsense variant in FANCD2/FANCI-associated nuclease 1 gene (FAN1), which encodes involved inter-strand cross-link repair. sequenced FAN1 176 additional families vitro functional analyses...
Certain Enterobacteriaceae strains contain a 54-kb biosynthetic gene cluster referred to as "pks" encoding the biosynthesis of secondary metabolite, colibactin. Colibactin-producing E. coli promote colorectal cancer (CRC) in preclinical models, and vitro induce specific mutational signature that is also detected human CRC genomes. Yet, how colibactin exposure affects landscape vivo remains unclear. Here we show colibactin-producing coli-driven colonic tumors mice have significantly higher...
Longitudinal ’omics analytical methods are extensively used in the evolving field of precision medicine, by enabling ‘big data’ recording and high-resolution interpretation complex datasets, driven individual variations response to perturbations such as disease pathogenesis, medical treatment or changes lifestyle. However, inherent technical limitations biomedical studies often result generation feature-rich sample-limited datasets. Analyzing data using conventional modalities proves be...