The Genographic Project Public Participation Mitochondrial DNA Database Export

@article{citeulike:1423948, 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\&\#8211;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.}, author = {Behar, Doron M. and Rosset, Saharon and Blue-Smith, Jason and Balanovsky, Oleg and Tzur, Shay and Comas, David and Mitchell, John R. and Quintana-Murci, Lluis and Tyler-Smith, Chris and Wells, Spencer R.}, citeulike-article-id = {1423948}, citeulike-linkout-0 = {http://dx.doi.org/10.1371/journal.pgen.0030104}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/17604454}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=17604454}, day = {1}, doi = {10.1371/journal.pgen.0030104}, journal = {PLoS Genetics}, keywords = {collaborate, database, homo, mtdna}, month = {June}, number = {6}, pages = {e104+}, posted-at = {2007-06-30 02:31:16}, priority = {3}, title = {The Genographic Project Public Participation Mitochondrial DNA Database}, url = {http://dx.doi.org/10.1371/journal.pgen.0030104}, volume = {3}, year = {2007} }

TY - JOUR ID - citeulike:1423948 L3 - citeulike-article-id:1423948 N2 - 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. IS - 6 JF - PLoS Genetics TI - The Genographic Project Public Participation Mitochondrial DNA Database VL - 3 SP - e104 KW - collaborate KW - database KW - homo KW - mtdna AU - Behar, Doron AU - Rosset, Saharon AU - Blue-Smith, Jason AU - Balanovsky, Oleg AU - Tzur, Shay AU - Comas, David AU - Mitchell, John AU - Quintana-Murci, Lluis AU - Tyler-Smith, Chris AU - Wells, Spencer PY - 2007/06/01/ UR - http://dx.doi.org/10.1371/journal.pgen.0030104 ER -