AnsNGS: An Annotation System to Sequence Variations of Next Generation Sequencing Data for Disease-Related Phenotypes

• Published in: Healthcare informatics research Vol. 19; no. 1; pp. 50 - 55
• Main Authors: Cho, Yonglae, Kim, Ju Han
• Format: Journal Article
• Language: English
• Published: Korea (South) Korean Society of Medical Informatics 01.03.2013; The Korean Society of Medical Informatics; 대한의료정보학회
• Subjects: disease; dna sequence analysis; genome structural variation; high-throughput nucleotide sequencing; molecular sequence annotation; Original; 예방의학; Genome Structural Variation; DNA Sequence Analysis; High-Throughput Nucleotide Sequencing; Disease; Molecular Sequence Annotation
• ISSN: 2093-3681; 2093-369X; 2093-369X
• DOI: 10.4258/hir.2013.19.1.50

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. 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. 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. 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/.