Disease and phenotype data at Ensembl

Curr Protoc Hum Genet. 2011 Apr;Chapter 6:Unit 6.11. doi: 10.1002/0471142905.hg0611s69.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Computational Biology / instrumentation
  • Computational Biology / methods*
  • Databases, Genetic*
  • Disease / genetics*
  • Genome, Human
  • Humans
  • Information Storage and Retrieval