- Genomic Databases: BIPMed provides two databases containing pooled variant information of subjects from the Brazilian reference population (Campinas/SP region) and phenotype-specific databases:
BIPMed-WES-db provides information obtained from Whole Exome Sequencing experiments and includes 106 subjects;
BIPMed-Array-db contemplates 264 individuals and the data were obtained from microarray-based experiments (Affymetrix GenomeWide SNP 6.0 array).
BIPMed-EE-db provides information about specific mutations found in patients with different types of epileptic encephalopathies.
BIPMed Craniofacial Anomalies: Brazilan Molecular Database on Craniofacial Anomalies is the genotype of 253 variants in 41 genes, with 358 Healthy individuals with no history of oral clefting in the past three generations, and 157 patients with Non-syndromic Cleft Lip and Palate
BIPMed-BRCA: The BRCA Challenge of the Global Alliance for Genomics and Health (GA4GH) aims to advance understanding of the genetic basis of breast cancer and related cancers by pooling data on BRCA genetic variants from around the world, bringing together information on sequence variation and clinical features in diverse populations. Our node show variants found in the Brazilian population.
Hereditary Hearing Loss – Brazilian Variants Databases
The database design follows the recommendations of the Human Genome Variation Society, in addition to the principles and guidelines of the Global Alliance for Genomics and Health (GA4GH) for the ethical and responsible sharing of genomic and clinical information.
Want to share your data at BIPMed Public Genomic Databases? Or, want to have access to the genomic information deposited in the BIPMed Public Genomic Databases? Please, check the rules and required documents.
- BIPMed Beacon: Beacon is a genetic mutation sharing platform developed by the Global Alliance for Genomics and Health (GA4GH). A beacon is web service that any institution can implement to share genetic data. A beacon answers questions of the form “Do you have information about the following mutation?” and responds with one of “Yes” or “No”, among potentially more information. The BIPMed Beacon can be directly accessed through this link, however users may benefit from accessing the whole Beacon Network at once.
- GA4GH R client: A Bioconductor package that provides an easy way to access public data servers through Global Alliance for Genomics and Health (GA4GH) Genomics API. This package also provides an interactive web application. Example of GA4GHclient package connected at the Thousand Genomes Project data server.