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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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Dades bibliogràfiques
Publicat a:BMC Bioinformatics
Autors principals: Yang, Xi, Song, Zhuo, Wu, Chengkun, Wang, Wei, Li, Gen, Zhang, Wei, Wu, Lingqian, Lu, Kai
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6311945/
https://ncbi.nlm.nih.gov/pubmed/30598077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-018-2526-2
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