Evidence map›Paper›PMID 19798441›Full record

ArticlePLoS genetics2009

Needles in the haystack: identifying individuals present in pooled genomic data.

Rosemary Braun, William Rowe, Carl Schaefer, Jinghui Zhang, Kenneth Buetow

Abstract readEvaluation Study
In one paragraph

Article in PLoS genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

25 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. Article
  5. Article
  6. A Secure Alignment Algorithm for Mapping Short Reads to Human Genome.Journal of computational biology : a journal of computational molecular cell biology · 2018
    Article
  7. Review
  8. On the privacy risks of sharing clinical proteomics data.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2016
    Article
  9. Privacy in the Genomic Era.ACM computing surveys · 2015
    Article
  10. Genetic data sharing and privacy.Neuroinformatics · 2015
    Article
  11. One Size Doesn't Fit All: Measuring Individual Privacy in Aggregate Genomic Data.Proceedings. IEEE Symposium on Security and Privacy. Workshops · 2015
    Article
  12. Article
  13. Review
  14. Systems analysis of high-throughput data.Advances in experimental medicine and biology · 2014
    Review
  15. Review
  16. Article
  17. Review
  18. Article
  19. Biobanking residual tissues.Human genetics · 2011
    Review
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors.

Rosemary BraunLaboratory of Population Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America. braunr@mail.nih.gov
William Rowe
Carl Schaefer
Jinghui Zhang
Kenneth Buetow

Funding

Bioinformatic Tools in Cancer ResearchZIHBC010470 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI BUETOW, KENNETH · 2009 to 2012
$2.6M
Molecular Genetic Epidemiology of Primary Hepatocellular CarcinomaZIABC011251 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI BUETOW, KENNETH · 2010 to 2012
$2.2M
Intramural NIH HHS
6 · The paper itself

Abstract

Recent publications have described and applied a novel metric that quantifies the genetic distance of an individual with respect to two population samples, and have suggested that the metric makes it possible to infer the presence of an individual of known genotype in a sample for which only the marginal allele frequencies are known. However, the assumptions, limitations, and utility of this metric remained incompletely characterized. Here we present empirical tests of the method using publicly accessible genotypes, as well as analytical investigations of the method's strengths and limitations. The results reveal that the null distribution is sensitive to the underlying assumptions, making it difficult to accurately calibrate thresholds for classifying an individual as a member of the population samples. As a result, the false-positive rates obtained in practice are considerably higher than previously believed. However, despite the metric's inadequacies for identifying the presence of an individual in a sample, our results suggest potential avenues for future research on tuning this method to problems of ancestry inference or disease prediction. By revealing both the strengths and limitations of the proposed method, we hope to elucidate situations in which this distance metric may be used in an appropriate manner. We also discuss the implications of our findings in forensics applications and in the protection of GWAS participant privacy.

Indexed as

Genetics, PopulationGenome-Wide Association StudyGenomicsGenotypeHumansModels, GeneticPolymorphism, Single Nucleotide

Identifiers

PMID19798441
PMCPMC2747273

What OpenQuestion holds

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Registered trials

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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.