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 includes annotation, filtration, manual inspection and literature review. Those steps are time-consuming and error-prone in the absence of systematic support. Therefore, we developed GTX.Digest.VCF, an online DNA sequencing interpretation system, which prioritizes genes and variants for novel disease-gene relation discovery and integrates text mining results to provide literature evidence for the discovery. Its phenotype-driven ranking and biological data mining approach significantly speed up t

SUBMITTER: Jiang Y 

PROVIDER: S-EPMC6923899 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature