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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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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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While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
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openSNP--a crowdsourced web resource for personal genomics.

Bastian Greshake1, Philipp E Bayer2, Helge Rausch3

  • 1Molecular Ecology Group, Biodiversity & Climate Research Centre, Frankfurt am Main, Germany; Department for Applied Bioinformatics, Institute for Cell Biology and Neuroscience, Goethe University, Frankfurt am Main, Germany.

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Summary
This summary is machine-generated.

Direct-To-Consumer genetic testing provides valuable data for Genome-Wide Association Studies. The openSNP platform enables individuals to share their genetic and phenotypic data, creating a crucial open-access resource for research.

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Area of Science:

  • Genetics
  • Bioinformatics
  • Computational Biology

Background:

  • Genome-Wide Association Studies (GWAS) identify genetic variants linked to phenotypic traits.
  • Large sample sizes are crucial for statistically significant GWAS findings.
  • Direct-To-Consumer (DTC) genetic testing offers accessible genotyping but data is often private.

Purpose of the Study:

  • To establish a central, open-access data repository for DTC genetic and phenotypic information.
  • To facilitate research, particularly GWAS, by overcoming data accessibility barriers.

Main Methods:

  • Development of the openSNP web platform.
  • Crowdsourcing genetic and phenotypic data from DTC testing participants.
  • Providing a no-cost platform for data publication.

Main Results:

  • Creation of openSNP, an open database for genetic and phenotypic data.
  • Accumulation of a significant dataset through voluntary participant contributions.
  • Enabling a resource for diverse research applications, including GWAS.

Conclusions:

  • openSNP addresses the need for open genetic data by leveraging DTC testing.
  • The platform democratizes genetic research by making data accessible.
  • openSNP fosters collaborative research and discovery in human genetics.