Last Update April 6, 2011

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Human Hemoglobin Genetic Variation

In a recent pilot project involving Nature Publishing Group, Thomson Reuters, Pennsylvania State University, and Leiden University Medical Center [1,2], we exposed 1747 nanopublications from the Supplemental Information accompanying a review article of human DNA variants in hemoglobin genes [3]. We estimate that the Supplementary Information contains as many as 38,000 such nanopublications.

Downloads

637 nanopublications describe the frequency (in %) of a DNA variant (using HGVS nomenclature) in a population of defined ethnicity: Download XML, Download RDF

1111 nanopublications link the DNA variant (using HGVS nomenclature) to its OMIM allelic variant Identification number: Download XML, Download RDF

References

  1. Axton M (2011) Crowdsourcing human mutations. Nature Genetics 43: 279.
  2. Mons B et al (2011) The value of data. Commentary, Nature Genetics 43: 281-283.
  3. Giardine B et al (2011) Systematic documentation and analysis of human genetic variation using the microattribution approach. Nature Genetics 43: 295-301.