A5102955015- Research Data Management Practices
- Scientific Computing and Data Management
- Advanced Proteomics Techniques and Applications
- Biomedical Text Mining and Ontologies
- Semantic Web and Ontologies
- Genomics and Phylogenetic Studies
- Genomics and Rare Diseases
- Service-Oriented Architecture and Web Services
- Bioinformatics and Genomic Networks
- Mass Spectrometry Techniques and Applications
- Business Process Modeling and Analysis
- CRISPR and Genetic Engineering
- Peptidase Inhibition and Analysis
- Glutathione Transferases and Polymorphisms
- Microbial Community Ecology and Physiology
- Multi-Agent Systems and Negotiation
- BRCA gene mutations in cancer
- Data Quality and Management
- Machine Learning in Bioinformatics
- Nutrition, Genetics, and Disease
- RNA and protein synthesis mechanisms
- Genetically Modified Organisms Research
SIB Swiss Institute of Bioinformatics
2015-2020
Hôpital Beau-Séjour
2020
Universidade do Porto
2009-2010
The neXtProt knowledgebase (https://www.nextprot.org) is an integrative resource providing both data on human protein and the tools to explore these. In order provide comprehensive up-to-date data, we evaluate add new sets. We describe incorporation of three sets that expression, function, protein-protein binary interaction, post-translational modifications (PTM) variant information. New SPARQL query examples illustrating uses were added. has continued develop for proteomics. have improved...
The neXtProt human protein knowledgebase (https://www.nextprot.org) continues to add new content and tools, with a focus on proteomics genetic variation data. now has data for over 85% of the proteins, as well tools tailored community.Moreover, release 2016-08-25 includes 8000 phenotypic observations 4000 variations in number genes involved hereditary cancers channelopathies. These changes are presented current update. All available via our user interface FTP site. We also provide an API...
neXtProt (http://www.nextprot.org) is a human protein-centric knowledgebase developed at the SIB Swiss Institute of Bioinformatics. Focused solely on proteins, aims to provide state art resource for representation biology by capturing wide range data, precise annotations, fully traceable data provenance and web interface which enables researchers find view information in comprehensive manner. Since introductory publication, significant advances have been made three main aspects: proteomics...
<ns4:p>The core mission of ELIXIR is to build a stable and sustainable infrastructure for biological information across Europe. At the heart this are data resources, tools services that offers life-sciences community, providing access data. aims ensure these resources available long-term life-cycles managed such they support scientific needs life-sciences, including research.</ns4:p><ns4:p> </ns4:p><ns4:p> Core Data Resources defined as set European fundamental importance wider life-science...
The neXtProt peptide uniqueness checker allows scientists to define which peptides can be used validate the existence of human proteins, i.e. map uniquely versus multiply protein sequences taking into account isobaric substitutions, alternative splicing and single amino acid variants.The pepx program is available at https://github.com/calipho-sib/pepx launched from command line or through a cgi web interface. Indexing requires sequence file in FASTA format. tool freely on...
Supplementary data are available at Bioinformatics online.
The Swiss Personalized Health Network (SPHN) is a government-funded initiative developing federated infrastructures for responsible and efficient secondary use of health data research purposes in compliance with the FAIR principles (Findable, Accessible, Interoperable Reusable). We built common standard infrastructure fit-for-purpose strategy to bring together health-related ease work both providers supply manner researchers by enhancing quality collected data. As result, SPHN Resource...
<ns4:p>The core mission of ELIXIR is to build a stable and sustainable infrastructure for biological information across Europe. At the heart this are data resources, tools services that offers life-sciences community, providing access data. aims ensure these resources available long-term life-cycles managed such they support scientific needs life-sciences, including research.</ns4:p><ns4:p> </ns4:p><ns4:p> Core Data Resources defined as set European fundamental importance wider life-science...
Germline pathogenic variants in the breast cancer type 1 susceptibility gene BRCA1 are associated with a 60% lifetime risk for and ovarian cancer. This overall estimate is all variants; obviously, not confer same of developing disease. In patients, loss function tumor tissue has been an increased sensitivity to platinum agents poly-(ADP-ribose) polymerase (PARP) inhibitors. For clinical management both at-risk individuals it would be important that each identified genetic variant...
The development of efficient text-mining tools promises to boost the curation workflow by significantly reducing time needed process literature into biological databases. We have developed a support tool, neXtA5, that provides search engine coupled with an annotation system directly integrated biocuration workflow. neXtA5 assists modules optimized for thevarious tasks: document triage, entity recognition and information extraction. Here, we describe evaluation expert curators. first assessed...
Abstract Motivation Life science research in academia, industry, agriculture, and the health sector depends critically on free open data resources. ELIXIR ( www.elixir-europe.org ), European Research Infrastructure for life sciences data, has identified a set of Core Data Resources within Europe that are most fundamental importance long-term preservation biological data. We explore characteristics their usage, impact assured funding horizon to assess value as an infrastructure, understand...
A 3-bp insertion/deletion polymorphism in intron 6 of GSTM3 (rs1799735, GSTM3*A/*B) affects the activity phase 2 xenobiotic metabolizing enzyme and has been associated with increased cancer risk. The GSTM3*B allele is rare or absent Southeast Asians, occurs 5-20% Europeans but was detected 80% Bantu from South Africa. wide genetic diversity among Africans led us to investigate whether high frequency prevailed other sub-Saharan African populations. In 168 healthy individuals Angola,...