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Related Concept Videos

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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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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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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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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Genomic standards consortium projects.

Dawn Field1, Peter Sterk2, Renzo Kottmann3

  • 1Centre for Ecology and Hydrology, Maclean Building, Benson Lane, Crowmarsh Gifford, Wallingford, Oxfordshire, OX10 8BB, United Kingdom ; Oxford e-Research Centre, University of Oxford, Oxford, United Kingdom.

Standards in Genomic Sciences
|September 9, 2014
PubMed
Summary
This summary is machine-generated.

The Genomic Standards Consortium (GSC) has established a new policy and template for proposing new genomics standardization activities. This ensures a clear process for community-driven development in genomic data standards.

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Area of Science:

  • Genomics and Bioinformatics
  • Standards Development
  • Data Harmonization

Background:

  • The Genomic Standards Consortium (GSC), founded in 2005, is a community dedicated to developing and harmonizing genomic data standards.
  • The GSC has evolved from establishing minimal descriptive standards to becoming an active standards-setting body with numerous ongoing projects.

Purpose of the Study:

  • To introduce a newly enacted policy for proposing new activities within the GSC.
  • To provide a standardized template for submitting new activity proposals to the GSC.

Main Methods:

  • Description of the GSC's policy for new activity proposals.
  • Presentation of the official template for proposing new GSC activities.

Main Results:

  • A formal policy for GSC activity proposals is now in place.
  • A standardized template is available to facilitate proposal submissions.

Conclusions:

  • The new policy and template streamline the process for community involvement in genomics standardization.
  • These measures support the GSC's ongoing mission to advance genomic data standards and harmonization.