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Updated: Feb 20, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Privacy Challenges of Genomic Big Data
1Department of Engineering and Public Policy, Carnegie Mellon University, Pittsburgh, PA, USA. hongs@andrew.cmu.edu.
Abstract:
With the rapid advancement of high-throughput DNA sequencing technologies, genomics has become a big data discipline where large-scale genetic information of human individuals can be obtained efficiently with low cost. However, such massive amount of personal genomic data creates tremendous challenge for privacy, especially given the emergence of direct-to-consumer (DTC) industry that provides genetic testing services. Here we review the recent development in genomic big data and its implications on privacy. We also discuss the current dilemmas and future challenges of genomic privacy.
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