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...

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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: Yen, Jennifer L., Garcia, Sarah, Montana, Aldrin, Harris, Jason, Chervitz, Stephen, Morra, Massimo, West, John, Chen, Richard, Church, Deanna M.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5267466/
https://ncbi.nlm.nih.gov/pubmed/28122645
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-016-0396-7
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