GenCoder · The first MPEG-G compliant software tools for efficient compression, storage, transport and analysis of genomic data enabling systems interoperability

Next-Generation Sequencing (NGS) devices have enormously impacted on genomic analysis and life sciences, with adrastic price reduction for sequencing a human genome (1,000 USD) and faster data processing, which resulted in theexponential accumulation of genomic data. However, the vast amount of genomic data produced and stored in clinics,research institutes, bio-banks and biotech companies is bringing along cumbersome informatics challenges: the hugeamount of data to be stored imply massive costs for data storage (850 €/TB per year, with average size of a whole humangenome being in the range of 0.4-3 TB), also due to the use of ineffective data formats not specifically designed for genomicdata; the lack of interoperability and standardized software and protocols prevents genome analysis centres to implementreliable, scalable, and widely-accepted applications for cross-correlating and comparing genomic data. GenCoder byGenomSys is a software tool specifically designed for efficient genomic information representation, compression andtransport, which provides the following main performances: (1) High compression rates in lossless mode (up to 90% withrespect to the BAM standard); (2) Selective access to specific blocks of data and metadata, so to significantly speed-up dataanalysis; (3) Interoperability amongst available data formats, enabled by the compliance with the ISO standard MPEG-G (tobe released in 2019), which is being developed by a joint working group having GenomSys as main contributor.The Phase 1 project will have as main outcomes the optimization and validation of the GenCoder performances throughtests involving huge datasets in selected data sequencing and storage facilities, and the business plan of the product, whichconsolidates the business model and pricing, the marketing strategy, and the financial plan.