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Ensembl 2015.

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Ensembl provides updated genomic annotations and tools for researchers, including new human genome assembly support and enhanced regulatory region analysis. This genomic interpretation system offers improved data querying and accessibility through its open-source code base.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Ensembl is a comprehensive genomic interpretation system for chordates and model organisms.
  • It provides up-to-date annotations, querying tools, and data access methods.

Purpose of the Study:

  • To release updated genomic annotations and introduce new features for researchers.
  • To enhance data analysis capabilities and improve accessibility of the Ensembl system.

Main Methods:

  • Updated gene models, comparative genomics, regulatory regions, and variation data on GRCh38.
  • Revamped Regulatory Build for identifying and analyzing regulatory regions across epigenetic datasets.
  • Development of new interfaces for large-scale data comparisons and an upgraded REST server for programmatic access.

Main Results:

  • Support for both GRCh38 and GRCh37.p13 human genome assemblies.
  • Enhanced identification and visualization of regulatory elements and their epigenetic context.
  • Improved Variant Effect Predictor for processing more variants and calculating summary statistics.
  • Introduction of WiggleTools for summarizing and visualizing large datasets within Ensembl.

Conclusions:

  • Ensembl continues to evolve, offering cutting-edge genomic data and analysis tools.
  • The system is more accessible with an open-source code base on GitHub and enhanced programmatic interfaces.
  • These updates empower researchers with advanced capabilities for genomic interpretation and data analysis.