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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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: Münz, Márton, Ruark, Elise, Renwick, Anthony, Ramsay, Emma, Clarke, Matthew, Mahamdallie, Shazia, Cloke, Victoria, Seal, Sheila, Strydom, Ann, Lunter, Gerton, Rahman, Nazneen
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Method
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4551696/
https://ncbi.nlm.nih.gov/pubmed/26315209
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-015-0195-6
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