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Genome Annotation and Assembly

The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Development of Compendium for Esophageal Squamous Cell Carcinoma
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genenames.org: the HGNC resources in 2011.

Ruth L Seal1, Susan M Gordon, Michael J Lush

  • 1European Bioinformatics Institute, EMBL-EBI, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK. hgnc@genenames.org

Nucleic Acids Research
|October 9, 2010
PubMed
Summary

The HUGO Gene Nomenclature Committee (HGNC) enhances its gene database and website (www.genenames.org) with new search and data access features. These updates improve discoverability for human gene symbols and related biological information.

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Area of Science:

  • Human Genetics
  • Bioinformatics
  • Genomic Databases

Background:

  • The HUGO Gene Nomenclature Committee (HGNC) is responsible for assigning unique symbols and names to human genes.
  • The HGNC database currently holds nearly 30,000 approved gene symbols, with over 19,000 for protein-coding genes.
  • The public website, www.genenames.org, provides access to approved nomenclature and curated data.

Purpose of the Study:

  • To report on recent improvements and new features implemented for the HGNC resources.
  • To enhance user experience and data accessibility for the human gene nomenclature database.

Main Methods:

  • Development of a new Quick Gene Search functionality.
  • Implementation of a new List Search feature.
  • Integration of the HGNC BioMart for advanced data retrieval.
  • Introduction of a new Statistics and Downloads facility.

Main Results:

  • The HGNC website now offers enhanced search capabilities for gene symbols and associated data.
  • New tools facilitate easier access to curated genomic, phenotypic, and proteomic information.
  • Improved data download and statistical analysis options are now available.

Conclusions:

  • The recent upgrades to www.genenames.org significantly improve the accessibility and usability of human gene nomenclature data.
  • These enhancements support researchers in navigating and utilizing comprehensive gene information for various biological studies.