We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays.
- Authors
Homer, Nils; Szelinger, Szabolcs; Redman, Margot; Duggan, David; Tembe, Waibhav; Muehling, Jill; Pearson, John V; Stephan, Dietrich A; Nelson, Stanley F; Craig, David W
- 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.
- Publication
PLoS genetics, 2008, Vol 4, Issue 8, pe1000167
- ISSN
1553-7404
- Publication type
Journal Article
- DOI
10.1371/journal.pgen.1000167