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Genome Data Integration Platforms

Overview Ever since the first whole human genome was sequenced a couple of years ago, the cost of producing genomic data has plummeted. In addition to significant impacts on science, the price drop today enables hospitals and bio-industries to use genomic data routinely, for example in diagnostics and drug development. Genomic data alone is not very useful, but needs to be examined in the right context in research and healthcare. Integration of data from different sources is an important part of this. Founded in 1997, BC Platforms has been enabling data integration, interpretation, and analysis since the dawn of whole genome research. Today, BC Platforms provides a standardized genome data integration solutions and platform for combining and interpreting large quantities of genomic data with clinical and other relevant data for research and clinical applications.

Federated database designed for flexibility, scalability and high performance Flexibility, scalability and high performance are the cornerstones of our data management platform. The association of personal patient data means that security is a top priority in design and implementation of data access. The heart of our solution is a central server with access interface, which manages the federated database, workflow control, and security. When data is needed, it is fetched from the various different sources, or warehouses, and converted to the required format on the fly. This allows, for example, keeping big data and sensitive clinical data in their own warehouses. The solution architecture is based on open standards in accordance with the Integrating the Healthcare Enterprise (IHE) initiative. Moreover, the federated metagenome data integration platform supports both structured and unstructured data and provides a secure and scalable data vault for all your life science data. Federated SQL queries, efficient data format conversions, tools for adding new data sources, and a workflow engine make life science data management, sharing and analysis easier and more efficient than ever before. Analyses can be run on local Linux boxes, institute calculation clusters, national calculation centers, cloud, or any combination of these. Our repository and data warehouse system fulfills all needs of a large enterprise or a research study. The solution scales up to the multipetabyte range on a single file system, enabling easy expansion of the infrastructure.

Complex workflows made easy and practical for clinicians and researchers Understanding how genome actually influences health and disease requires a lot more information than provided by just genomic data. The necessary data comes from many different sources, including electronic medical records, laboratory information management systems, and public databases. In addition, there exist a variety of tools that are needed for the downstream analysis of metagenomic data.


To enable clinicians and researchers to combine and use all the information seamlessly, we have developed a genome data platform that controls the entire workflow. It integrates different systems and allows analyses to be run via a comprehensive, user-friendly web interface. Clinicians benefit from features such as multicenter clinical data collection, sample management system, pedigree drawing, and genomic data visualization. Individual patient reports with predictive health scores and score validation reports are also supported by the system. Researchers can choose between multiple analysis tools integrated into the platform. In order to speed up the compute-intensive analyses, a lot of effort has been put into parallelization of those processes for a faster runtime. Our solution also includes widely used open source tools for data pre-processing, alignment, variant calling, and data cleaning. Comprehensive downstream analysis, including association (GWAS), imputing, linkage, population stratification, functional annotation of variants/mutations, and gene-based burden tests are all included in our platform.

Content and meaningfulness of the information We work closely with researchers who provide novel insights into the genome biology of organisms and advance genomic medicine. Our solution can be enhanced with additional capabilities and new components created in these projects. These new applications are simply placed on top of the existing platforms, forming a customized pool of ‘apps’ for metagenomic data analysis. The outside applications allow users to incorporate proprietary molecular or clinical data to our highly secure domain. When interpreting results through BC Platforms connected software, users will be able to generate unprecedented research and clinical findings.

Scalable in-house or hosted SaaS platform BC Platforms products are delivered as in-house or hosted Software-as-a-Service (SaaS) solutions. Hosting can take place in a local hosting company, a national health data certified data center, or the cloud (only available to US customers for health data confidentiality reasons). Our platform has been designed to scale up and to solve the big genome data challenges cost-effectively by using innovative data splitting and massively parallel genomic data analysis workflows. As an in-house solution, it can utilize the various existing storage solutions and calculation resources, as well as local authentication systems.

Data security Our platform meets EU’s strict health and medical data protection requirements and is HIPAA compliant (the US Health Insurance Portability and Accountability Act). Our long list of diverse customer cases is a testament to keeping the data safe in our platform. The confidentiality and integrity of your protected electronic health information are assured with our solution. To maximize patient data security, we follow the EU recommendations on storing health data to servers operated by foreign companies.

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