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Updated: Oct 13, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Functional genomics data: privacy risk assessment and technological mitigation
Gamze Gürsoy1,2, Tianxiao Li1, Susanna Liu3,4
1Computational Biology and Bioinformatics Program, Yale University, New Haven, CT, USA.
Next-generation sequencing generates functional genomics data, posing privacy risks similar to genetic data. Unique challenges arise from information leakage during data processing, requiring solutions for safe data sharing and analysis.
Area of Science:
- Genomics
- Bioinformatics
- Data Privacy
Background:
- Next-generation sequencing (NGS) has dramatically increased functional genomics data generation.
- Broad data sharing is crucial for scientific progress but raises significant privacy concerns.
- Existing privacy challenges are similar to those in genetic variant data sharing.
Purpose of the Study:
- To review unique privacy challenges in functional genomics data.
- To identify risks associated with information leakage during data processing.
- To present solutions for mitigating privacy risks in functional genomics data.
Main Methods:
- Review of existing literature on data privacy in genomics.
- Analysis of information leakage points in functional genomics data pipelines.
- Exploration of privacy-preserving techniques for data summarization.
Main Results:
- Functional genomics data present unique privacy risks beyond genetic variant data.
- Cryptic information leakage can occur from raw reads to derived data like gene expression.
- Potential solutions exist to balance data utility with privacy protection.
Conclusions:
- Addressing privacy challenges in functional genomics is essential for continued research.
- Implementing privacy-preserving methods allows for broader data dissemination and analysis.
- Balancing data sharing and privacy is achievable through careful methodology.
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