The genographic project public participation mitochondrial DNA database

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dc.contributor.authorBehar, D.
dc.contributor.authorRosset, S.
dc.contributor.authorBlue-Smith, J.
dc.contributor.authorBalanovsky, O.
dc.contributor.authorTzur, S.
dc.contributor.authorComas, D.
dc.contributor.authorMitchell, R.
dc.contributor.authorQuintana-Murci, L.
dc.contributor.authorTyler-Smith, C.
dc.contributor.authorWells, R.
dc.contributor.authorSchurr, T.
dc.contributor.authorSantos, F.
dc.contributor.authorBertranpetit, J.
dc.contributor.authorBalanovska, E.
dc.contributor.authorJin, L.
dc.contributor.authorSoodyall, H.
dc.contributor.authorPitchappan, R.
dc.contributor.authorCooper, A.
dc.contributor.authorRoyyuru, A.
dc.contributor.editorMcVean, G.
dc.date.issued2007
dc.descriptionCopyright: © 2007 Behar et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. University of Adelaide consortium member: Alan Cooper
dc.description.abstractThe Genographic Project is studying the genetic signatures of ancient human migrations and creating an open-source research database. It allows members of the public to participate in a real-time anthropological genetics study by submitting personal samples for analysis and donating the genetic results to the database. We report our experience from the first 18 months of public participation in the Genographic Project, during which we have created the largest standardized human mitochondrial DNA (mtDNA) database ever collected, comprising 78,590 genotypes. Here, we detail our genotyping and quality assurance protocols including direct sequencing of the mtDNA HVS-I, genotyping of 22 coding-region SNPs, and a series of computational quality checks based on phylogenetic principles. This database is very informative with respect to mtDNA phylogeny and mutational dynamics, and its size allows us to develop a nearest neighbor–based methodology for mtDNA haplogroup prediction based on HVS-I motifs that is superior to classic rule-based approaches. We make available to the scientific community and general public two new resources: a periodically updated database comprising all data donated by participants, and the nearest neighbor haplogroup prediction tool.
dc.identifier.citationPLoS Genetics, 2007; 3(6):1083-1095
dc.identifier.doi10.1371/journal.pgen.0030104
dc.identifier.issn1553-7390
dc.identifier.issn1553-7404
dc.identifier.orcidCooper, A. [0000-0002-7738-7851]
dc.identifier.urihttp://hdl.handle.net/2440/49560
dc.language.isoen
dc.publisherPublic Library of Science
dc.source.urihttp://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.0030104
dc.subjectGenographic Consortium
dc.subjectMitochondria
dc.subjectHumans
dc.subjectDNA, Mitochondrial
dc.subjectSequence Analysis, DNA
dc.subjectPolymorphism, Single Nucleotide
dc.subjectDatabases, Nucleic Acid
dc.subjectFemale
dc.subjectMale
dc.titleThe genographic project public participation mitochondrial DNA database
dc.typeJournal article
pubs.publication-statusPublished

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