Cited by 103Privacy-Preserving Technologies in DataGenetic Associations and EpidemiologyEthics in Clinical Research

On Sharing Quantitative Trait GWAS Results in an Era of Multiple-omics Data and the Limits of Genomic Privacy

Open access
Im, Hae Kyung, Gamazon, Eric R., Nicolae, Dan L., Cox, Nancy J.·2012·The American Journal of Human Genetics

Abstract

Recent advances in genome-scale, system-level measurements of quantitative phenotypes (transcriptome, metabolome, and proteome) promise to yield unprecedented biological insights. In this environment, broad dissemination of results from genome-wide association studies (GWASs) or deep-sequencing efforts is highly desirable. However, summary results from case-control studies (allele frequencies) have been withdrawn from public access because it has been shown that they can be used for inferring participation in a study if the individual's genotype is available. A natural question that follows is how much private information is contained in summary results from quantitative trait GWAS such as regression coefficients or p values. We show that regression coefficients for many SNPs can reveal the person's participation and for participants his or her phenotype with high accuracy. Our power calculations show that regression coefficients contain as much information on individuals as allele frequencies do, if the person's phenotype is rather extreme or if multiple phenotypes are available as has been increasingly facilitated by the use of multiple-omics data sets. These findings emphasize the need to devise a mechanism that allows data sharing that will facilitate scientific progress without sacrificing privacy protection.

Integrity signals

Registry

Crossref · 10.1016/j.ajhg.2012.02.008

Cites

2 of 2 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Genomic data can never be truly anonymized, and a steady stream of provocative studies has demonstrated that it is possible to discover the identities of individuals whose genomic data had otherwise been considered deidentified.

    “However, this rapidly evolving research arena has been accompanied by equally rapid confirmation that genomic data can never be truly anonymized. 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.”

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Im, H. K., Gamazon, E. R., Nicolae, D. L., & Cox, N. J.
Affiliations
University of Chicago (US)
Corresponding author
  • Im, Hae Kyung
  • Cox, Nancy J.
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2012-04
Volume
90
Issue
4
Pages
591-598
ISSN
0002-9297 (ISSN-L)
OpenAlex
W2134493890
Cited by
103
References
2
Citations by year
2026: 3 · 2025: 3 · 2024: 2 · 2023: 7 · 2022: 8 · 2021: 11 · 2020: 5 · 2019: 7 · 2018: 4 · 2017: 5 · 2016: 13 · 2015: 8 · 2014: 11 · 2013: 11 · 2012: 5
FWCI
11.00
Type
journal article
Language
en
Open access
Locations
  • The American Journal of Human Genetics (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Institute of Mental Health (R01MH090937)
  • National Institute of Diabetes and Digestive and Kidney Diseases (P60DK20595, P60DK020595)
Topics
  • Physical Sciences › Computer Science › Artificial Intelligence › Privacy-Preserving Technologies in Data
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
Keywords
genetic privacy, regression coefficients, re-identification, data sharing, allele frequency, case-control study, privacy preservation, power analysis
MeSH terms
Female, Gene Frequency, Humans, Male, Privacy, Genomics, Information Dissemination, Quantitative Trait Loci, Proteomics, Genome-Wide Association Study, Metabolomics, Transcriptome

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review