NG HEALTH:VARIATION

BioProject (formerly Genome Project) A collection of genomics, functional genomics, and genetics studies and links to their resulting datasets.This resource describesproject scope, material, and objectives and provides a mechanism to retrieve datasets that are often difficult to find due to inconsistent annotation, multiple independent submissions, and the varied nature of diversedata types which are often stored in different databases. ClinVar A resource under development to providea public, tracked record of reported relationships among human variation and observed health status.ClinVar has a projected launch date for late 2011. Database of GenomicStructural Variation (dbVar) The dbVar database has been developed to archive information associated with large scale genomic variation,including large insertions, deletions, translocations and inversions. In addition to archiving variation discovery, dbVar also stores associations of defined variants with phenotype information. Database of Genotypes and Phenotypes (dbGaP) An archive and distribution center for the description and results of studies which investigate the interaction of genotype and phenotype. These studies include genome-wide association (GWAS), medical resequencing, moleculardiagnostic assays, as well as association between genotype and non-clinical traits. Database of Major Histocompatibility Complex (dbMHC) An open, publicly accessible platform where the HLA community can submit, edit, view, and exchange data related to the human major histocompatibility complex. It consists of an interactive Alignment Viewer for HLA and related genes, an MHC microsatellite database, a sequence interpretation site for Sequencing Based Typing (SBT), and a Primer/Probe database. Database of Short Genetic Variations (dbSNP) Includes single nucleotide variations, microsatellites, and small-scale insertions and deletions. dbSNP contains population-specific frequency and genotype data, experimental conditions, molecular context, and mapping information for both neutral variations and clinical mutations. Genetic Testing Registry (GTR) A voluntary registry of genetic tests and laboratories, with detailed information about the tests such as what is measured and analytic and clinical validity. GTR also is a nexus for information about genetic conditions and provides context-specific links toa variety of resources, including practice guidelines, published literature, and genetic data/information. The initial scope of GTR includes single gene tests for Mendelian disorders, as well as arrays, panels and pharmacogenetic tests.