UNIT 6.11 Disease and Phenotype Data at Ensembl

  1. Giulietta M. Spudich,
  2. Xosé M. Fernández-Suárez

Published Online: 1 FEB 2011

DOI: 10.1002/0471142905.hg0611s69

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Spudich, G. M. and Fernández-Suárez, X. M. 2011. Disease and Phenotype Data at Ensembl. Current Protocols in Human Genetics. 69:6.11:6.11.1–6.11.34.

Author Information

  1. EMBL-European Bioinformatics Institute, Cambridge, United Kingdom

Publication History

  1. Published Online: 1 FEB 2011
  2. Published Print: APR 2011


Biological databases are an important resource for the life sciences community. Accessing the hundreds of databases supporting molecular biology and related fields is a daunting and time-consuming task. Integrating this information into one access point is a necessity for the life sciences community, which includes researchers focusing on human disease. Here we discuss the Ensembl genome browser, which acts as a single entry point with Graphical User Interface to data from multiple projects, including OMIM, dbSNP, and the NHGRI GWAS catalog. Ensembl provides a comprehensive source of annotation for the human genome, along with other species of biomedical interest. In this unit, we explore how to use the Ensembl genome browser in example queries related to human genetic diseases. Support protocols demonstrate quick sequence export using the BioMart tool. Curr. Protoc. Hum. Genet. 69:6.11.1-6.11.34 © 2011 by John Wiley & Sons, Inc.


  • computer graphics;
  • databases;
  • genetic variation;
  • genomics;
  • cytogenetics;
  • sequence homology;
  • sequence alignment;
  • informatics;
  • computational biology