Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/49560
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Type: Journal article
Title: The genographic project public participation mitochondrial DNA database
Author: Behar, D.
Rosset, S.
Blue-Smith, J.
Balanovsky, O.
Tzur, S.
Comas, D.
Mitchell, R.
Quintana-Murci, L.
Tyler-Smith, C.
Wells, R.
Schurr, T.
Santos, F.
Bertranpetit, J.
Balanovska, E.
Jin, L.
Soodyall, H.
Pitchappan, R.
Cooper, A.
Royyuru, A.
Citation: PLoS Genetics, 2007; 3(6):1083-1095
Publisher: Public Library of Science
Issue Date: 2007
ISSN: 1553-7390
1553-7404
Abstract: The 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.
Keywords: Genographic Consortium; Mitochondria; Humans; DNA, Mitochondrial; Sequence Analysis, DNA; Polymorphism, Single Nucleotide; Databases, Nucleic Acid; Female; Male
Description: Copyright: © 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
RMID: 0020084801
DOI: 10.1371/journal.pgen.0030104
Published version: http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.0030104
Appears in Collections:Earth and Environmental Sciences publications
Australian Centre for Ancient DNA publications
Environment Institute Leaders publications

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