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

• Main Authors: Yanhuang Jiang (Author), Chengkun Wu (Author), Yanghui Zhang (Author), Shaowei Zhang (Author), Shuojun Yu (Author), Peng Lei (Author), Qin Lu (Author), Yanwei Xi (Author), Hua Wang (Author), Zhuo Song (Author)
• Format: Book
• Published: BMC, 2019-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...