Journal
BIOINFORMATICS
Volume 37, Issue 17, Pages 2753-2754Publisher
OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btab087
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Funding
- Wellcome [100956/Z/13/Z, 201535/Z/16/Z, 206194]
- Strategic Focal Area Personalized Health and Related Technologies (PHRT) of the ETH Domain [2017-201]
- European Joint Programme on Rare Diseases (EJP-RD) [825575]
- NHMRC [1113531]
- Medical Research Future Fund
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To protect sensitive genetic data, a file container specification has been defined to enable direct analysis of encrypted genetic data without the need to create decrypted copies.
Motivation: The majority of genome analysis tools and pipelines require data to be decrypted for access. This potentially leaves sensitive genetic data exposed, either because the unencrypted data is not removed after analysis, or because the data leaves traces on the permanent storage medium. Results: : We defined a file container specification enabling direct byte-level compatible random access to encrypted genetic data stored in community standards such as SAM/BAM/CRAM/VCF/BCF. By standardizing this format, we show how it can be added as a native file format to genomic libraries, enabling direct analysis of encrypted data without the need to create a decrypted copy.
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