Article
A variant by any name: quantifying annotation discordance across tools and clinical databases.
Genome medicine - 26 Jan 2017
Yen Jennifer L, Garcia Sarah, Montana Aldrin, Harris Jason, Chervitz Stephen, Morra Massimo, West John, Chen Richard, Church Deanna M
Abstract excerpt
BACKGROUND: Clinical genomic testing is dependent on the robust identification and reporting of variant-level information in relation to disease. With the shift to high-throughput sequencing, a major challenge for clinical diagnostics is the cross-identification of variants called on their genomic position to resources that rely on transcript- or protein-based descriptions. METHODS: We evaluated the accuracy of...
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