Cristina González
A5076792141- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Genomics and Phylogenetic Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Bioinformatics and Genomic Networks
- Gene expression and cancer classification
- vaccines and immunoinformatics approaches
- Genomic variations and chromosomal abnormalities
- Ethics in Clinical Research
- Computational Drug Discovery Methods
- Genetic Associations and Epidemiology
- Nutrition, Genetics, and Disease
- Genetics, Bioinformatics, and Biomedical Research
- Sperm and Testicular Function
- Digestive system and related health
- BRCA gene mutations in cancer
- Scientific Computing and Data Management
- Thyroid Cancer Diagnosis and Treatment
- Trace Elements in Health
- Distributed and Parallel Computing Systems
- Iron Metabolism and Disorders
- Hemoglobinopathies and Related Disorders
- Reproductive System and Pregnancy
European Bioinformatics Institute
2016-2020
Open Targets
2016
Centro de Investigacion Principe Felipe
2012-2015
Centre for Biomedical Network Research on Rare Diseases
2012
Universidad de Extremadura
2012
We have designed and developed a data integration visualization platform that provides evidence about the association of known potential drug targets with diseases. The is to support identification prioritization biological for follow-up. Each target linked disease using integrated genome-wide from broad range sources. either target-centric workflow identify diseases may be associated specific target, or disease-centric disease. Users can easily transition between these target- workflows....
The massive use of Next-Generation Sequencing (NGS) technologies is uncovering an unexpected amount variability. functional characterization such variability, particularly in the most common form variation found, Single Nucleotide Variants (SNVs), has become a priority that needs to be addressed systematic way. VARIANT (VARIant ANalyis Tool) reports information on variants found include consequence type and annotations taken from different databases repositories (SNPs dbSNP 1000 genomes,...
Abstract Summary Standardized interfaces for efficiently accessing high-throughput sequencing data are a fundamental requirement large-scale genomic sharing. We have developed htsget, protocol secure, efficient and reliable access to read variation data. demonstrate four independent client server implementations, the results of comprehensive interoperability demonstration. Availability implementation http://samtools.github.io/hts-specs/htsget.html Supplementary information available at...
The molecular mechanisms leading to sporadic medullary thyroid carcinoma (sMTC) and juvenile papillary (PTC), two rare tumours of the gland, remain poorly understood. Genetic studies on carcinomas have been conducted, although just a few loci systematically associated. Given difficulties obtain single-loci associations, this work expands its scope study epistatic interactions that could help understand genetic architecture complex diseases explain new heritable components risk. We carried...
Abstract We conducted a genome-wide association study in large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. Two genomic regions associated with the most severe histological pattern SPGF, defined by Sertoli cell-only (SCO) phenotype, namely MHC class II gene HLA-DRB1 (rs1136759, P = 1.32E-08, OR 1.80) an upstream locus...
<ns4:p>Copy number variations (CNVs) are major causative contributors both in the genesis of genetic diseases and human neoplasias. While “High-Throughput” sequencing technologies increasingly becoming primary choice for genomic screening analysis, their ability to efficiently detect CNVs is still heterogeneous remains be developed. The aim this white paper provide a guiding framework future contributions ELIXIR’s recently established <ns4:italic>h</ns4:italic><ns4:italic>uman CNV Community,...