Reference Databases for Disease Associations

摘要: Making sense of the human variation in context disease has many challenges. A medical genetics professional faced with a list identified variants must be able to evaluate, and reevaluate, whether there are prior reports about any variant, what current interpretation that variant might be, and/or if predicted consequences. The sources publicly available information diverse, so needs know not only how find information, but also large centralized databases datasets maintained case is highly supported. This chapter provides an overview genetic ascertained—both common provide baseline unlikely primary cause disorder, rarer may contribute disease. It summarizes features major archive submissions (dbSNP, dbVar), variation–disease associations (dbGaP), clinical interpretations (ClinVar). tools support access these data by several paths, e.g., location on genome, gene, or measured phenotype. describes community efforts encourage sharing develop standards promote development grade databases.