A5077188545- Cancer Genomics and Diagnostics
- Genomics and Phylogenetic Studies
- Genomics and Rare Diseases
- Telomeres, Telomerase, and Senescence
- Epigenetics and DNA Methylation
- Cutaneous Melanoma Detection and Management
- Genomics and Chromatin Dynamics
- Ocular Oncology and Treatments
- Biomedical Text Mining and Ontologies
- RNA modifications and cancer
- vaccines and immunoinformatics approaches
- Occupational and environmental lung diseases
- Genomic variations and chromosomal abnormalities
- Genetics, Aging, and Longevity in Model Organisms
- Computational Drug Discovery Methods
Universidad Nacional Autónoma de México
2017-2022
RSAT (Regulatory Sequence Analysis Tools) is a suite of modular tools for the detection and analysis cis-regulatory elements in genome sequences. Its main applications are (i) motif discovery, including from genome-wide datasets like ChIP-seq/ATAC-seq, (ii) scanning, (iii) (quality assessment, comparisons clustering), (iv) regulatory variations, (v) comparative genomics. Six public servers jointly support 10 000 genomes all kingdoms. novel or refactored programs have been added since 2015...
Pathogenic germline variants in the protection of telomeres 1 gene (POT1) have been associated with predisposition to a range tumour types, including melanoma, glioma, leukaemia and cardiac angiosarcoma. We sequenced all coding exons POT1 2928 European-descent melanoma cases 3298 controls, identifying 43 protein-changing genetic variants. performed POT1-telomere binding assays for missense stop-gained variants, finding nine that impair or disrupt protein-telomere complex formation, we...
Identifying disease-causing variants from exome sequencing projects remains a challenging task that often requires bioinformatics expertise. Here we describe user-friendly graphical application allows medical professionals and bench biologists to prioritize visualize genetic human data.We have implemented VCF/Plotein, graphical, fully interactive web able display data in VCF format. Gene variant information is extracted Ensembl. Cross-referencing with external databases application-based...
ABSTRACT Purpose To create a user-friendly web application that allows researchers, medical professionals and patients to easily securely view, filter interact with human exome sequencing data in the Variant Call Format (VCF). Methods We have created VCF/Plotein, written entirely JavaScript using Vue.js framework, available at http://vcfplotein.liigh.unam.mx . After VCF is loaded, gene variant information extracted from Ensembl, cross-referencing external databases performed via...
Abstract Pathogenic germline variants in the protection of telomeres 1 gene ( POT1 ) have been associated with predisposition to a range tumor types, including melanoma, glioma, leukemia and cardioangiosarcoma. We sequenced all coding exons 2,929 European-descent melanoma cases 3,298 controls, identifying 43 protein-changing genetic variants. performed POT1-telomere binding assays for missense stop gained variants, finding nine that impair or disrupt protein-telomere complex formation, we...