A variant by any name: quantifying annotation discordance across tools and clinical databases
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- 作者：Jennifer L. Yen ; Sarah Garcia ; Aldrin Montana ; Jason Harris…
- 关键词：HGVS ; Clinical testing ; Genomics ; Annotation ; Sequencing ; Syntax ; Precision medicine ; Variant
- 刊名：Genome Medicine
- 出版年：2017
- 出版时间：December 2017
- 年：2017
- 卷：9
- 期：1
- 全文大小：1121KB
- 刊物主题：Human Genetics; Metabolomics; Bioinformatics; Medicine/Public Health, general; Cancer Research; Systems Biology;
- 出版者：BioMed Central
- ISSN：1756-994X
- 卷排序：9
文摘
BackgroundClinical 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.