Evidence map›Paper›PMID 32398369›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2020

Secure large-scale genome-wide association studies using homomorphic encryption.

Marcelo Blatt, Alexander Gusev, Yuriy Polyakov, Shafi Goldwasser

Open access · bronzeAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed, 1 pooled it
10.3field-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

39 citing papers in PubMed, 1 synthesis or guideline pooled it, 137 citations in OpenAlex.

  1. Pooled it
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  7. Making the case for an International Childhood Cancer Data Partnership.Journal of the National Cancer Institute · 2025
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  17. Privacy-Enhancing Technologies in Biomedical Data Science.Annual review of biomedical data science · 2024
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 2 institutions in 1 country.

Marcelo BlattDuality Technologies, Inc., Newark, NJ 07103.
Alexander GusevDuality Technologies, Inc., Newark, NJ 07103.
Yuriy PolyakovDuality Technologies, Inc., Newark, NJ 07103; ypolyakov@dualitytech.com shafi@csail.mit.edu.
Shafi GoldwasserDuality Technologies, Inc., Newark, NJ 07103; ypolyakov@dualitytech.com shafi@csail.mit.edu.
Duality (United States) · USHarvard University · US

Funding

(PQ3) A functional genomic approach to identification and interpretation of germline-tumor genetic interactionsR01CA227237 · NCI · DANA-FARBER CANCER INST · PI GUSEV, ALEXANDER, ZAITLEN, NOAH A · 2018 to 2022
$3.5M
GEARS: GEnomic Analysis Research with SecurityR43HG010123 · NHGRI · DUALITY TECHNOLOGIES, INC. · PI ROHLOFF, KURT · 2018 to 2018
$150k
NCI NIH HHS R01 CA227237NHGRI NIH HHS R43 HG010123
6 · The paper itself

Abstract

Genome-wide association studies (GWASs) seek to identify genetic variants associated with a trait, and have been a powerful approach for understanding complex diseases. A critical challenge for GWASs has been the dependence on individual-level data that typically have strict privacy requirements, creating an urgent need for methods that preserve the individual-level privacy of participants. Here, we present a privacy-preserving framework based on several advances in homomorphic encryption and demonstrate that it can perform an accurate GWAS analysis for a real dataset of more than 25,000 individuals, keeping all individual data encrypted and requiring no user interactions. Our extrapolations show that it can evaluate GWASs of 100,000 individuals and 500,000 single-nucleotide polymorphisms (SNPs) in 5.6 h on a single server node (or in 11 min on 31 server nodes running in parallel). Our performance results are more than one order of magnitude faster than prior state-of-the-art results using secure multiparty computation, which requires continuous user interactions, with the accuracy of both solutions being similar. Our homomorphic encryption advances can also be applied to other domains where large-scale statistical analyses over encrypted data are needed.

Indexed as

Computer SecurityGenome-Wide Association StudyGenomicsHumansPolymorphism, Single NucleotideTime Factorsencrypted computinggenome-wide association studieshomomorphic encryption

Identifiers

PMID32398369
PMCPMC7261120
OpenAlexW3024430195

What OpenQuestion holds

Textmetadata
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.