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bioRxiv · 10.1101/2022.01.07.475366

Assessing and assuring interoperability of a genomics file format

Niu, Y. N.·Roberts, E. G.·Denisko, D.·Hoffman, M. M.
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Abstract

BackgroundBioinformatics software tools operate largely through the use of specialized genomics file formats. Often these formats lack formal specification, and only rarely do the creators of these tools robustly test them for correct handling of input and output. This causes problems in interoperability between different tools that, at best, wastes time and frustrates users. At worst, interoperability issues could lead to undetected errors in scientific results. MethodsWe sought (1) to assess the interoperability of a wide range of bioinformatics software using a shared genomics file format and (2) to provide a simple, reproducible method for enhancing inter-operability. As a focus, we selected the popular Browser Extensible Data (BED) file format for genomic interval data. Based on the file formats original documentation, we created a formal specification. We developed a new verification system, Acidbio (https://github.com/hoffmangroup/acidbio), which tests for correct behavior in bioinformatics software packages. We crafted tests to unify correct behavior when tools encounter various edge cases--potentially unexpected inputs that exemplify the limits of the format. To analyze the performance of existing software, we tested the input validation of 80 Bioconda packages that parsed the BED format. We also used a fuzzing approach to automatically perform additional testing. ResultsOf 80 software packages examined, 75 achieved less than 70% correctness on our test suite. We categorized multiple root causes for the poor performance of different types of software. Fuzzing detected other errors that the manually designed test suite could not. We also created a badge system that developers can use to indicate more precisely which BED variants their software accepts and to advertise the softwares performance on the test suite. DiscussionAcidbio makes it easy to assess interoperability of software using the BED format, and therefore to identify areas for improvement in individual software packages. Applying our approach to other file formats would increase the reliability of bioinformatics software and data.

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Niu, Y. N., Roberts, E. G., Denisko, D., Hoffman, M. M.. 2022-01-07. Assessing and assuring interoperability of a genomics file format. https://doi.org/10.1101/2022.01.07.475366

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