Evidence map›Paper›PMID 26828419›Full record

ArticleNature methods2016

Quantification of private information leakage from phenotype-genotype data: linking attacks.

Arif Harmanci, Mark Gerstein

Abstract read
In one paragraph

Article in Nature methods, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
59citing papers in PubMed, 1 pooled it
18.2field-weighted citation impact, top 1% of its field
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

59 citing papers in PubMed, 1 synthesis or guideline pooled it, 138 citations in OpenAlex.

  1. Pooled it
  2. Unlocking Sensitive Data with SPHERE in the Age of AI.bioRxiv : the preprint server for biology · 2026
    Article
  3. Privacy-preserving pangenome graphs.Nature communications · 2026
    Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. Article
  9. Review
  10. Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Privacy of single-cell gene expression data.Patterns (New York, N.Y.) · 2024
    Article
  18. Article
  19. Article
  20. Clinical Research Informatics: a Decade-in-Review.Yearbook of medical informatics · 2024
    Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

2 authors at 1 institution in 1 country.

Arif HarmanciProgram in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, USA.
Mark GersteinProgram in Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, USA.
Yale University · US

Funding

SOC CoreU54DA036134 · NIDA · BAYLOR COLLEGE OF MEDICINE · PI GALAS, DAVID J., GERSTEIN, MARK BENDER · 2013 to 2018
$15.0M
An Integrative Analysis of Structural Variation for the 1000 Genomes ProjectU41HG007497 · NHGRI · JACKSON LABORATORY · PI LEE, CHARLES · 2013 to 2017
$13.0M
Methods and Software to Enhance Genomic Privacy and Sharing of RNA-Seq DataU01EB023686 · NIBIB · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER · 2016 to 2018
$730k
Lost-of-function variants in the 1000 genomes data set and implications to GWASU01HG005718 · NHGRI · YALE UNIVERSITY · PI ZHAO, HONGYU · 2010 to 2011
$533k
NHGRI NIH HHS U01 HG005718NHGRI NIH HHS U41 HG007497NIBIB NIH HHS U01 EB023686NIDA NIH HHS U54 DA036134
6 · The paper itself

Abstract

Studies on genomic privacy have traditionally focused on identifying individuals using DNA variants. In contrast, molecular phenotype data, such as gene expression levels, are generally assumed to be free of such identifying information. Although there is no explicit genotypic information in phenotype data, adversaries can statistically link phenotypes to genotypes using publicly available genotype-phenotype correlations such as expression quantitative trait loci (eQTLs). This linking can be accurate when high-dimensional data (i.e., many expression levels) are used, and the resulting links can then reveal sensitive information (for example, the fact that an individual has cancer). Here we develop frameworks for quantifying the leakage of characterizing information from phenotype data sets. These frameworks can be used to estimate the leakage from large data sets before release. We also present a general three-step procedure for practically instantiating linking attacks and a specific attack using outlier gene expression levels that is simple yet accurate. Finally, we describe the effectiveness of this outlier attack under different scenarios.

Indexed as

Computer SecurityConfidentialityDatabases, GeneticAnonymous TestingData MiningGenetic PrivacyGenotypeHumansPhenotypeQuantitative Trait Loci

Identifiers

PMID26828419
PMCPMC4834871
OpenAlexW2254169419

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.