Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays Export

@article{citeulike:3173638, abstract = {We use high-density single nucleotide polymorphism (SNP) genotyping microarrays to demonstrate the ability to accurately and robustly determine whether individuals are in a complex genomic DNA mixture. We first develop a theoretical framework for detecting an individual's presence within a mixture, then show, through simulations, the limits associated with our method, and finally demonstrate experimentally the identification of the presence of genomic DNA of specific individuals within a series of highly complex genomic mixtures, including mixtures where an individual contributes less than 0.1\% of the total genomic DNA. These findings shift the perceived utility of SNPs for identifying individual trace contributors within a forensics mixture, and suggest future research efforts into assessing the viability of previously sub-optimal DNA sources due to sample contamination. These findings also suggest that composite statistics across cohorts, such as allele frequency or genotype counts, do not mask identity within genome-wide association studies. The implications of these findings are discussed.}, author = {Homer, Nils and Szelinger, Szabolcs and Redman, Margot and Duggan, David and Tembe, Waibhav and Muehling, Jill and Pearson, John V. and Stephan, Dietrich A. and Nelson, Stanley F. and Craig, David W.}, citeulike-article-id = {3173638}, citeulike-linkout-0 = {http://dx.doi.org/10.1371/journal.pgen.1000167}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/18769715}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=18769715}, day = {29}, doi = {10.1371/journal.pgen.1000167}, journal = {PLoS Genet}, keywords = {confidentiality, identifiability, identification, privacy, reidentification}, month = {August}, number = {8}, pages = {e1000167+}, posted-at = {2008-09-02 16:14:20}, priority = {0}, publisher = {Public Library of Science}, title = {Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays}, url = {http://dx.doi.org/10.1371/journal.pgen.1000167}, volume = {4}, year = {2008} }

TY - JOUR ID - citeulike:3173638 L3 - citeulike-article-id:3173638 N2 - We use high-density single nucleotide polymorphism (SNP) genotyping microarrays to demonstrate the ability to accurately and robustly determine whether individuals are in a complex genomic DNA mixture. We first develop a theoretical framework for detecting an individual's presence within a mixture, then show, through simulations, the limits associated with our method, and finally demonstrate experimentally the identification of the presence of genomic DNA of specific individuals within a series of highly complex genomic mixtures, including mixtures where an individual contributes less than 0.1% of the total genomic DNA. These findings shift the perceived utility of SNPs for identifying individual trace contributors within a forensics mixture, and suggest future research efforts into assessing the viability of previously sub-optimal DNA sources due to sample contamination. These findings also suggest that composite statistics across cohorts, such as allele frequency or genotype counts, do not mask identity within genome-wide association studies. The implications of these findings are discussed. IS - 8 JF - PLoS Genet TI - Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays PB - Public Library of Science VL - 4 SP - e1000167 KW - confidentiality KW - identifiability KW - identification KW - privacy KW - reidentification AU - Homer, Nils AU - Szelinger, Szabolcs AU - Redman, Margot AU - Duggan, David AU - Tembe, Waibhav AU - Muehling, Jill AU - Pearson, John AU - Stephan, Dietrich AU - Nelson, Stanley AU - Craig, David PY - 2008/08/29/ UR - http://dx.doi.org/10.1371/journal.pgen.1000167 ER -