Ensembl 2017

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.