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The Chills and Thrills of Whole Genome Sequencing

2013/06/05 by Erman Ayday, Ayday, Erman, Emiliano De Cristofaro +5
Biochemistry, Genetics and Molecular Biology · Medicine · #Biomedical Ethics and Regulation #Cryptography and Security (cs.CR) #Ethics in Clinical Research #FOS: Computer and information sciences #Genomics and Rare Diseases

paper · pdf · doi:10.48550/arxiv.1306.1264

openalex publication_date 2013/06/05 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28

Abstract

In recent years, Whole Genome Sequencing (WGS) evolved from a futuristic-sounding research project to an increasingly affordable technology for determining complete genome sequences of complex organisms, including humans. This prompts a wide range of revolutionary applications, as WGS promises to improve modern healthcare and provide a better understanding of the human genome -- in particular, its relation to diseases and response to treatments. However, this progress raises worrisome privacy and ethical issues, since, besides uniquely identifying its owner, the genome contains a treasure trove of highly personal and sensitive information. In this article, after summarizing recent advances in genomics, we discuss some important privacy issues associated with human genomic information and identify a number of particularly relevant research challenges.

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