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GTX.Digest.VCF: an online NGS data interpretation system based on intelligent gene ranking and large-scale text mining

BACKGROUND: An important task in the interpretation of sequencing data is to highlight pathogenic genes (or detrimental variants) in the field of Mendelian diseases. It is still challenging despite the recent rapid development of genomics and bioinformatics. A typical interpretation workflow include...

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Detalles Bibliográficos
Autores principales:	Jiang, Yanhuang, Wu, Chengkun, Zhang, Yanghui, Zhang, Shaowei, Yu, Shuojun, Lei, Peng, Lu, Qin, Xi, Yanwei, Wang, Hua, Song, Zhuo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Software
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6923899/ https://www.ncbi.nlm.nih.gov/pubmed/31856831 http://dx.doi.org/10.1186/s12920-019-0637-x

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