Cited by 1,221Forensic and Genetic ResearchGenetic diversity and population structureGenetic Associations and Epidemiology

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

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Homer, Nils, Szelinger, Szabolcs, Redman, Margot, Duggan, David, Tembe, Waibhav, Muehling, Jill, Pearson, John V., Stephan, Dietrich A., Nelson, Stanley F., Craig, David W.·2008·PLoS Genetics

DOI 10.1371/journal.pgen.1000167PMC PMC2516199

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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.

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“A steady stream of provocative studies (51, 62, 68, 122) has demonstrated that it is possible to discover the identities of individuals whose genomic data had otherwise been considered deidentified.”
Background

Authors: Homer, N., Szelinger, S., Redman, M., Duggan, D., Tembe, W., Muehling, J., Pearson, J. V., Stephan, D. A., Nelson, S. F., & Craig, D. W.
Affiliations: Translational Genomics Research Institute (US)
University of California, Los Angeles (US)
Corresponding author: Craig, David W.
ORCID: Szelinger, Szabolcs
Duggan, David
Muehling, Jill
Pearson, John V.
Stephan, Dietrich A.
Craig, David W.
Venue: PLoS Genetics
Publisher: Public Library of Science (PLoS)
Published: 2008-08-29
Volume: 4
Issue: 8
Pages: e1000167
ISSN: 1553-7390 (ISSN-L)
1553-7404
DOI: 10.1371/journal.pgen.1000167
PMC: PMC2516199
OpenAlex: W2040228409
Cited by: 1,221
References: 21
Citations by year: 2026: 24 · 2025: 42 · 2024: 54 · 2023: 71 · 2022: 81 · 2021: 76 · 2020: 89 · 2019: 103 · 2018: 87 · 2017: 81 · 2016: 65 · 2015: 59 · 2014: 79 · 2013: 62 · 2012: 63
FWCI: 34.85
Type: journal article
Language: en
Open access: gold
doi.org
Licence: cc-by
creativecommons.org/licenses/by/4.0/ (unspecified)
Locations: PLoS Genetics (publishedVersion, cc-by)
Europe PMC (PubMed Central) (publishedVersion, cc-by)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Funders: Wellcome Trust (076113)
Translational Genomics Research Institute
National Institutes of Health
National Heart, Lung, and Blood Institute (U01HL086528)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: DNA mixture analysis, single nucleotide polymorphisms, forensic DNA identification, sample contamination, genome-wide association study
MeSH terms: Computer Simulation, Genetics, Medical, Genotype, Humans, Genome, Human, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide

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

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