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Ensembl 2020.

Andrew D Yates1, Premanand Achuthan1, Wasiu Akanni1

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Ensembl has released 94 new and updated genomes, doubling its resource size. This expansion enhances genome annotation, comparative genomics, and offers new tools for genetic variation analysis.

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Area of Science:

  • Genomics
  • Bioinformatics
  • Comparative Genomics

Background:

  • Ensembl is a comprehensive genome annotation system for vertebrates and model organisms.
  • It integrates diverse experimental and reference data into a unified resource.

Purpose of the Study:

  • To announce the largest expansion of the Ensembl resource to date.
  • To detail improvements in human annotation, epigenome analysis, and new tools for genetic research.

Main Methods:

  • Genome annotation pipeline integrating multiple data sources.
  • Development of new analytical and visualization tools for genomic data.

Main Results:

  • 94 new and re-annotated genomes added, bringing the total to 227.
  • Enhancements in human gene annotation and epigenome data visualization.
  • Introduction of a tool for imputing causal genes from genome-wide association studies (GWAS).

Conclusions:

  • The Ensembl resource has significantly expanded, offering unprecedented genomic data.
  • New tools and improved analyses facilitate deeper understanding of genetic variation and function.
  • Data and software are freely accessible, supporting broad scientific research.
  • Regular data updates ensure the resource remains current.