Article

SPDI: Data Model for Variants and Applications at NCBI

2019-01-31

Abstract excerpt

<h4>Motivation</h4> Normalizing diverse representations of sequence variants is critical to the elucidation of the genetic basis of disease and biological function. NCBI has long wrestled with integrating data from multiple submitters to build databases such as dbSNP and ClinVar. Inconsistent representation of variants among variant callers, local databases, and tools results in discrepancies and duplications tha...

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Literature Corpus work: b9adc94b-b2af-5f53-ac78-b254d25833cf
DOI: 10.1101/537449

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