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Updated: Jun 26, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Genie: the first open-source ISO/IEC encoder for genomic data
Fabian Müntefering1, Yeremia Gunawan Adhisantoso2, Shubham Chandak3
1Institut für Informationsverarbeitung (TNT), Leibniz University Hannover, Appelstraße 9a, Hannover, 30167, Germany. muenteferi@tnt.uni-hannover.de.
Abstract:
For the last two decades, the amount of genomic data produced by scientific and medical applications has been growing at a rapid pace. To enable software solutions that analyze, process, and transmit these data in an efficient and interoperable way, ISO and IEC released the first version of the compression standard MPEG-G in 2019. However, non-proprietary implementations of the standard are not openly available so far, limiting fair scientific assessment of the standard and, therefore, hindering its broad adoption. In this paper, we present Genie, to the best of our knowledge the first open-source encoder that compresses genomic data according to the MPEG-G standard. We demonstrate that Genie reaches state-of-the-art compression ratios while offering interoperability with any other standard-compliant decoder independent from its manufacturer. Finally, the ISO/IEC ecosystem ensures the long-term sustainability and decodability of the compressed data through the ISO/IEC-supported reference decoder.
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