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Ensembl 2017.

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Ensembl provides a comprehensive database and genome browser for vertebrate genomics research. It integrates diverse data, offering tools for large-scale analysis and enhancing gene regulation and comparative genomics resources.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Genome Biology

Background:

  • Ensembl is a widely used database and genome browser for vertebrate genomics.
  • It integrates diverse large-scale reference data for a comprehensive view of genome biology.
  • Existing resources facilitate gene and regulatory region annotation, genome variation analysis, and gene tree construction.

Purpose of the Study:

  • To present recent developments and enhancements to the Ensembl database and genome browser.
  • To highlight improvements in gene regulation, comparative genomics, and data analysis tools.
  • To detail new functionalities for genome variation, data visualization, and discovery.

Main Methods:

  • Importing, analyzing, curating, and integrating diverse large-scale reference data.
  • Developing and releasing new browser functionality and analytical tools.
  • Enhancing data access through a track hub registry and REST endpoints.

Main Results:

  • Improved resources for gene regulation and comparative genomics.
  • Addition of CRISPR/Cas9 target sites.
  • New tools for genome variation filtering, prioritization, Manhattan plots (LD and eQTL data), and ontology search for phenotypes and diseases.
  • Enhanced data discovery and access via track hub registry and REST endpoints.

Conclusions:

  • Ensembl provides a comprehensive solution for large-scale and targeted genomics applications.
  • Recent updates enhance research capabilities in gene regulation, comparative genomics, and genome variation analysis.
  • Freely available data and open-source code foster community-driven scientific advancement.