a web application for interpreting human variations

Bioinformatics. 2015 Dec 15;31(24):4035-7. doi: 10.1093/bioinformatics/btv500. Epub 2015 Aug 26.


Rapid advances of next-generation sequencing technology have led to the integration of genetic information with clinical care. Genetic basis of diseases and response to drugs provide new ways of disease diagnosis and safer drug usage. This integration reveals the urgent need for effective and accurate tools to analyze genetic variants. Due to the number and diversity of sources for annotation, automating variant analysis is a challenging task. Here, we present, a web application that combines variant annotation, prioritization and visualization so as to support insight into the individual genetic characteristics. It enhances annotation speed by preprocessing data on a supercomputer, and reduces database space via a unified database representation with compressed fields.

Availability and implementation: Freely available at

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Databases, Nucleic Acid*
  • Genetic Variation*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Internet
  • Molecular Sequence Annotation
  • Software*