AnsNGS: An Annotation System to Sequence Variations of Next Generation Sequencing Data for Disease-Related Phenotypes.
- Author:
Young Ji NA
1
;
Yonglae CHO
;
Ju Han KIM
Author Information
- Publication Type:Original Article
- Keywords: High-Throughput Nucleotide Sequencing; DNA Sequence Analysis; Molecular Sequence Annotation; Genome Structural Variation; Disease
- MeSH: Fees and Charges; Genome, Human; Genomic Structural Variation; High-Throughput Nucleotide Sequencing; Humans; Molecular Sequence Annotation; Phenotype; Sequence Analysis, DNA
- From:Healthcare Informatics Research 2013;19(1):50-55
- CountryRepublic of Korea
- Language:English
- Abstract: OBJECTIVES: Next-generation sequencing (NGS) data in the identification of disease-causing genes provides a promising opportunity in the diagnosis of disease. Beyond the previous efforts for NGS data alignment, variant detection, and visualization, developing a comprehensive annotation system supported by multiple layers of disease phenotype-related databases is essential for deciphering the human genome. To satisfy the impending need to decipher the human genome, it is essential to develop a comprehensive annotation system supported by multiple layers of disease phenotype-related databases. METHODS: AnsNGS (Annotation system of sequence variations for next-generation sequencing data) is a tool for contextualizing variants related to diseases and examining their functional consequences. The AnsNGS integrates a variety of annotation databases to attain multiple levels of annotation. RESULTS: The AnsNGS assigns biological functions to variants, and provides gene (or disease)-centric queries for finding disease-causing variants. The AnsNGS also connects those genes harbouring variants and the corresponding expression probes for downstream analysis using expression microarrays. Here, we demonstrate its ability to identify disease-related variants in the human genome. CONCLUSIONS: The AnsNGS can give a key insight into which of these variants is already known to be involved in a disease-related phenotype or located in or near a known regulatory site. The AnsNGS is available free of charge to academic users and can be obtained from http://snubi.org/software/AnsNGS/.
