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

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

Abstract 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...

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Bibliographic Details
Main Authors: Yanhuang Jiang, Chengkun Wu, Yanghui Zhang, Shaowei Zhang, Shuojun Yu, Peng Lei, Qin Lu, Yanwei Xi, Hua Wang, Zhuo Song
Format: Article
Language:English
Published: BMC 2019-12-01
Series:BMC Medical Genomics
Subjects:
NGS data interpretation
Gene prioritization
Neural network
Text mining
Distributed parallel computing
Online Access:https://doi.org/10.1186/s12920-019-0637-x

Internet

https://doi.org/10.1186/s12920-019-0637-x

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