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REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis

BACKGROUND: Current copy number variation (CNV) identification methods have rapidly become mature. However, the postdetection processes such as variant interpretation or reporting are inefficient. To overcome this situation, we developed REDBot as an automated software package for accurate and direc...

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Detalles Bibliográficos
Autores principales: Liu, Mengmeng, Zhong, Yunshan, Liu, Hongqian, Liang, Desheng, Liu, Erhong, Zhang, Yu, Tian, Feng, Liang, Qiaowei, Cram, David S., Wang, Hua, Wu, Lingqian, Yu, Fuli
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667294/
https://www.ncbi.nlm.nih.gov/pubmed/32961042
http://dx.doi.org/10.1002/mgg3.1488