title: Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays.
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.
authors.affiliation: Translational Genomics Research Institute, Phoenix, Arizona, United States of America.
authors.forename: Nils
authors.initials: N
authors.lastname: Homer
authors.forename: Szabolcs
authors.initials: S
authors.lastname: Szelinger
authors.forename: Margot
authors.initials: M
authors.lastname: Redman
authors.forename: David
authors.initials: D
authors.lastname: Duggan
authors.forename: Waibhav
authors.initials: W
authors.lastname: Tembe
authors.forename: Jill
authors.initials: J
authors.lastname: Muehling
authors.forename: John V
authors.initials: JV
authors.lastname: Pearson
authors.forename: Dietrich A
authors.initials: DA
authors.lastname: Stephan
authors.forename: Stanley F
authors.initials: SF
authors.lastname: Nelson
authors.forename: David W
authors.initials: DW
authors.lastname: Craig