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A variant by any name: quantifying annotation discordance across tools and clinical databases
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 p...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5267466/ https://www.ncbi.nlm.nih.gov/pubmed/28122645 http://dx.doi.org/10.1186/s13073-016-0396-7 |