Abstract

Large-scale epigenome mapping by the NIH Roadmap Epigenomics Project, the ENCODE Consortium and the International Human Epigenome Consortium (IHEC) produces genome-wide DNA methylation data at one base-pair resolution. We examine how such data can be made open-access while balancing appropriate interpretation and genomic privacy. We propose guidelines for data release that both reduce ambiguity in the interpretation of open-access data and limit immediate access to genetic variation data that are made available through controlled access.Electronic supplementary materialThe online version of this article (doi:10.1186/s13059-015-0723-0) contains supplementary material, which is available to authorized users.

Highlights

  • Large-scale epigenome mapping by the National Institute of Health (NIH) RoadMap Epigenomics (Roadmap) Epigenomics Project, the ENCODE Consortium and the International Human Epigenome Consortium (IHEC) produces genome-wide DNA methylation data at one base-pair resolution

  • We quantify the extent to which identifying DNA sequence information confounds anonymization using the example of methylation data, and conduct an ethical-legal analysis of the issues raised with respect to the privacy and autonomy of research participants

  • Absolute anonymization of even small amounts of DNA sequence information can be impossible given the extent to which DNA sequence is unique to individuals [3, 4], but epigenomic data lend themselves more readily to anonymization

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Summary

Introduction

Large-scale epigenome mapping by the NIH Roadmap Epigenomics Project, the ENCODE Consortium and the International Human Epigenome Consortium (IHEC) produces genome-wide DNA methylation data at one base-pair resolution. From a genomic privacy standpoint, DNA sequence information can lead to the re-identification of research participants’ data by genetic

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