CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

BACKGROUND: Next-generation sequencing (NGS) offers unprecedented opportunities to expand clinical genomics. It also presents challenges with respect to integration with data from other sequencing methods and historical data. Provision of consistent, clinically applicable variant annotation of NGS d...

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Detalles Bibliográficos
Autores principales: Münz, Márton, Ruark, Elise, Renwick, Anthony, Ramsay, Emma, Clarke, Matthew, Mahamdallie, Shazia, Cloke, Victoria, Seal, Sheila, Strydom, Ann, Lunter, Gerton, Rahman, Nazneen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4551696/
https://www.ncbi.nlm.nih.gov/pubmed/26315209
http://dx.doi.org/10.1186/s13073-015-0195-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4551696/
https://www.ncbi.nlm.nih.gov/pubmed/26315209
http://dx.doi.org/10.1186/s13073-015-0195-6

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