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Constructing a database for the relations between CNV and human genetic diseases via systematic text mining

BACKGROUND: The detection and interpretation of CNVs are of clinical importance in genetic testing. Several databases and web services are already being used by clinical geneticists to interpret the medical relevance of identified CNVs in patients. However, geneticists or physicians would like to ob...

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Detalles Bibliográficos
Autores principales: Yang, Xi, Song, Zhuo, Wu, Chengkun, Wang, Wei, Li, Gen, Zhang, Wei, Wu, Lingqian, Lu, Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311945/
https://www.ncbi.nlm.nih.gov/pubmed/30598077
http://dx.doi.org/10.1186/s12859-018-2526-2