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