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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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Jiang, Yanhuang, Wu, Chengkun, Zhang, Yanghui, Zhang, Shaowei, Yu, Shuojun, Lei, Peng, Lu, Qin, Xi, Yanwei, Wang, Hua, Song, Zhuo
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
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Software
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6923899/
https://ncbi.nlm.nih.gov/pubmed/31856831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-019-0637-x
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