Details

Autor(en) / Beteiligte

• Homer, Nils
• Szelinger, Szabolcs
• Redman, Margot
• Duggan, David
• Tembe, Waibhav
• Muehling, Jill
• Pearson, John V
• Stephan, Dietrich A
• Nelson, Stanley F
• Craig, David W

Titel

Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays: e1000167

Ist Teil von

• PLoS genetics, 2008-08, Vol.4 (8)

Ort / Verlag

San Francisco: Public Library of Science

Erscheinungsjahr

2008

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• 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.