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
Summary
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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