After the primary analysis of NGS data, the power of genomic analysis software lies within its ability to perform secondary and tertiary analysis. During secondary analysis, data reads are reassembled and filtered to represent the underlying biology, while tertiary analysis software analyzes variants and their similarities to references. With advancements in technology and the necessity for data sharing, genomic researchers are beginning to leverage cloud-based NGS solutions.

Cloud-based NGS analysis software allows customers to harness, tailor and share results. The cloud-based aspect allows for online and on-demand functionality from cloud servers that store and process sequencing data. This design allows for real-time updates, data sharing and remote storage for big data. In addition, cloud pipelines are very flexible, allowing users to customize their workflows.

Previously, analysis methods and algorithms for handling sequence data were developed internally by open-source providers or bundled with traditional on-site or stand-alone software. However, cloud-based NGS analysis software has gained momentum in recent years. NGS vendors are extending beyond primary analysis and adding cloud-based services for secondary and tertiary analysis.

Illumina offers its BaseSpace Sequence Hub, a cloud-based genomics computing environment for NGS. The software platform can be accessed online and offers 82 applications developed by Illumina and third-party providers. End-users can develop their own bioinformatics pipelines customized to their workflows on BaseSpace. With cloud-based technologies, raw or processed data can be easily shared.

Thermo Fisher Cloud is Thermo Fisher Scientific’s cloud-based service that provides a platform for its Ion Reporter software. Ion Reporter is capable of variant detection and reporting for Thermo Scientific’s Ion Torrent NGS product line. The software is able to identify SNPs, indels, CNVs and gene fusions. Users can access preconfigured workflows or create custom workflows to identify these variants. After filtering for relevant variants based on end-user specifications, Ion Reporter can generate visual aids, including heat maps and Venn diagrams.

End-users that have multiple NGS platforms might opt for Maverix’s Dx platform. It is designed to support geographically distributed CLIA environments that use Illumina, Thermo Scientific and other NGS technologies. The analytical pipeline is flexible, and utilizes Maverix’s existing applications and customer-provided algorithms. The platform is designed for high volumes of data. Applications developed by Maverix are capable of QC, sequencing read alignment and variant detection.

The genomic bioinformatics market is estimated at half a billion dollars. Cloud-based NGS analysis software represents only a small portion but is expected to increase significantly over the next few years to facilitate data sharing and storage requirements.

Cloud-based NGS Analysis Software at a Glance:

Leading Suppliers

• Illumina

• QIAGEN

• Thermo Fisher Scientific

Largest Markets

• Academia

• Hospital and Clinical

• Government