Article

GAVIN - Gene-Aware Variant INterpretation for medical sequencing

2016-08-30

Abstract excerpt

<h4>ABSTRACT</h4> Here, we present GAVIN, a new method that delivers accurate classification of variants for next-generation sequencing molecular diagnostics. It is based on gene-specific calibrations of allele frequencies (from the ExAC database), effect impact (using SnpEff) and estimated deleteriousness (CADD scores) for >3,000 genes. In a benchmark on 18 clinical gene sets, we achieved a sensitivity of 91.6%,...

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Literature Corpus work: 4cb12956-09fc-56f3-9e81-2b6851682bd9
DOI: 10.1101/072330

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