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• W157075310 abstract "Making sense of the human variation in the context of human disease has many challenges. A medical genetics professional faced with a list of identified variants must be able to evaluate, and reevaluate, whether there are prior reports about any variant, what the current interpretation of that variant might be, and/or if there are predicted consequences. The sources of publicly available information are diverse, so the genetics professional needs to know not only how to find information, but also how large centralized databases and datasets are maintained in case a current interpretation is not highly supported. This chapter provides an overview of how human genetic information is ascertained—both the common variation to provide the baseline of information about variation unlikely to be the primary cause of a disorder, and the rarer variation that may contribute to disease. It summarizes the features of major databases that archive submissions about variation (dbSNP, dbVar), about variation–disease associations (dbGaP), and clinical interpretations of variation (ClinVar). It also summarizes major tools that support access to these data by several paths, e.g., by location on the genome, by gene, and by disease or measured phenotype. The chapter also describes community efforts to encourage data sharing and to develop standards that promote the development of clinical grade databases." @default.
• W157075310 created "2016-06-24" @default.
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• W157075310 date "2015-01-01" @default.
• W157075310 modified "2023-10-18" @default.
• W157075310 title "Reference Databases for Disease Associations" @default.
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• W157075310 doi "https://doi.org/10.1016/b978-0-12-404748-8.00012-5" @default.
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