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AnsNGS: An Annotation System to Sequence Variations of Next Generation Sequencing Data for Disease-Related Phenotypes

OBJECTIVES: Next-generation sequencing (NGS) data in the identification of disease-causing genes provides a promising opportunity in the diagnosis of disease. Beyond the previous efforts for NGS data alignment, variant detection, and visualization, developing a comprehensive annotation system suppor...

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Detalles Bibliográficos
Autores principales: Na, Young-Ji, Cho, Yonglae, Kim, Ju Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Medical Informatics 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3633172/
https://www.ncbi.nlm.nih.gov/pubmed/23626918
http://dx.doi.org/10.4258/hir.2013.19.1.50