ArticlePLoS genetics2008
Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays.
Article in PLoS genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 420 papers, 3 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
420 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- A Prospective Analysis of Genetic Variants Associated with Human Lifespan.G3 (Bethesda, Md.) · 2019Pooled it
- The research participant perspective related to the conduct of genomic cohort studies: A systematic review of the quantitative literature.Translational behavioral medicine · 2018Pooled it
- A systematic literature review of individuals' perspectives on privacy and genetic information in the United States.PloS one · 2018Pooled it
- Privacy-preserving visualization of brain functional connectivity.NeuroImage · 2026Article
- GPC: An expressive and tractable deep generative model for genetic variation data.PLoS genetics · 2026Article
- FedEdgeR: federated and privacy-preserving edgeR for differential gene expression analysis.bioRxiv : the preprint server for biology · 2026Article
- Big Data and Artificial Intelligence in Cancer Drug Discovery: Promise, Challenges, and Emerging Opportunities.Cancers · 2026Review
- Privacy and Security Throughout the Health Data Life Cycle: From Primary Care to Research Networks.Annual review of biomedical data science · 2026Review
- Eras of bioinformatics technologies from command-line interfaces to artificial intelligence (AI) chatbots.Briefings in bioinformatics · 2026Review
- Individual Identification of Prey in Carnivore Scats.Molecular ecology resources · 2026Article
- A Genomic Method for Combating Wildlife Trafficking: SNP-Based Traceability of Four Endangered Species in China.Animals : an open access journal from MDPI · 2026Article
- WiNGS-API: a federated genome/phenome data sharing platform enabling gene discovery and variant classification for rare diseases.Genome medicine · 2026Article
- scDesignPop generates realistic population-scale single-cell RNA-seq for power analysis, benchmarking, and privacy protection.bioRxiv : the preprint server for biology · 2026Article
- Data sharing in the PRIMED Consortium: Design, implementation, and recommendations for future policymaking.American journal of human genetics · 2025Review
- AI-Driven Transcriptome Prediction in Human Pathology: From Molecular Insights to Clinical Applications.Biology · 2025Review
- Beacon Reconstruction Attack: Reconstruction of genomes in genomic data-sharing beacons using summary statistics.Bioinformatics (Oxford, England) · 2025Article
- Implementation of NGS and SNP microarrays in routine forensic practice: opportunities and barriers.BMC genomics · 2025Review
- Secure and scalable gene expression quantification with pQuant.Nature communications · 2025Article
- Addressing contemporary threats in anonymised healthcare data using privacy engineering.NPJ digital medicine · 2025Review
- NeuroDISK: An AI Approach to Automate Continuous Inquiry-Driven Discoveries in Neuroimaging Genetics.bioRxiv : the preprint server for biology · 2025Article
360 more citing papers are in PubMed but not listed here.
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10 authors.
Funding
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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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.