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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...
Autores principales: | Na, Young-Ji, Cho, Yonglae, Kim, Ju Han |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Korean Society of Medical Informatics
2013
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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 |
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