Population-ethnic group specific genome variation allele frequency data: a querying and visualization journey

Genomics. 2012 Aug;100(2):93-101. doi: 10.1016/j.ygeno.2012.05.009. Epub 2012 May 30.

Abstract

National/ethnic mutation databases aim to document the genetic heterogeneity in various populations and ethnic groups worldwide. We have previously reported the development and upgrade of FINDbase (www.findbase.org), a database recording causative mutations and pharmacogenomic marker allele frequencies in various populations around the globe. Although this database has recently been upgraded, we continuously try to enhance its functionality by providing more advanced visualization tools that would further assist effective data querying and comparisons. We are currently experimenting in various visualization techniques on the existing FINDbase causative mutation data collection aiming to provide a dynamic research tool for the worldwide scientific community. We have developed an interactive web-based application for population-based mutation data retrieval. It supports sophisticated data exploration allowing users to apply advanced filtering criteria upon a set of multiple views of the underlying data collection and enables browsing the relationships between individual datasets in a novel and meaningful way.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Chromosome Mapping
  • Computational Biology / methods
  • Databases, Genetic*
  • Ethnicity / genetics*
  • Gene Frequency*
  • Genetic Markers
  • Genetics, Population / methods
  • Genome, Human*
  • Humans
  • Information Storage and Retrieval
  • Internet
  • Mutation*
  • Pharmacogenetics
  • Software
  • User-Computer Interface

Substances

  • Genetic Markers