Solutions|Core Technology
Single Platform for Integrated Healthcare Data
Core Technology Elements
- Tiling technology for highly scalable genomic data storage, querying and analysis combining benefits of compressed variant data with fast queriablity
- Advanced querying possible through linked annotation information to variants
- Extensive set of importer and exporter tools for genomic filetypes (VCF, Plink etc.) to simplify data processing
- Distributed analysis model for scaling tertiary analysis of genomic data utilizing tiled data as a source
- API support for distributed data access
- Technology to run secure network of data provider instances to execute genomic analysis locally and only move aggregate and summary information from provider infrastructure
- Database structure enables user defined, custom data structure creation for clinical and other phenotypic data based on needs instead of predefined, static data models
- Annotation of data fields (e.g. genotype fields or clinical coding) integrating data management and analysis capabilities to existing data sets without remodeling the data
- Semi-automatic data structure creation based on imported data and data harmonization from multiple sources (e.g. clinical trial outputs) to one dataset for cross source analysis
- Pipeline automation for high throughput genetic laboratories: automated processing of NGS and array data with configuration of relevant pipelines based on sample meta-data
- Cloud-agnostic integration for pipeline execution possible in multiple clouds (GCP, AWS, Azure) utilizing high throughput calculation components as well as local HPC environments
- Automated quality control analysis for array data and integration of NGS data QC
- API’s for accessing analysis statuses and results
- Guideline based variant interpretation and detailed reporting (ACMG, ASCO)
- Automated data import and annotation with access to latest reporting and annotation services
- Comprehensive decision support in the analysis of sequencing data
- Interpretation of germline or somatic genome information into clinically actionable insights
- Storage of interpreted variants for creation of knowledge base allowing further queries and reports
- HL7 and FIHR capable integration engine for LIMS and EHR integrations supporting both ingestion of orders as well as delivery of digital reports
- Pipeline automation based on integrations and instrument run files to minimise launch effort
- REST API’s for integration with other applications to build seamless workflows from order registration to report delivery
- Integration service (BC|INTERPRET Cloud) for integrating chosen third party interpretation services directly to the platform
Timo Kanninen
CSO
“We have a strong scientific heritage with over 25 years of working in close collaboration with leading researchers, developers, and industry partners. Our history, starting with a type 2 diabetes GWAS analysis project at the Whitehead Institute, has allowed us to build a comprehensive platform featuring the latest scientific discoveries merged with our robust technology foundation.”
Niko Hurskainen
CTO
“We continue to innovate on two fronts - our state of the art core technology and its applications. Throughout our close engagement with customers serving healthcare and research needs, we continue to focus on operating at the forefront of technical innovation, ensuring top performance, scalability and security of our deployments.”
Product Key Highlights
BC | INSIGHTis a data and research management solution for clinical genomics studies. Genomic and phenotypic data is collected and stored on the platform, and users have access to data and tools through an application account. All common data types for NGS, GWAS, variant analysis, linkage, and other statistics can be managed on the platform. BC|INSIGHT scales up from small candidate gene studies to large international collaboration environments. The platform supports organisation of genomic and clinical projects to distinguish between studies and user groups. BC|INSIGHT provides fine-grained access management and auditing tools for building quality certified processes.
- Small to large scale genomic and clinical data management
- Users collaborate on same data sharing platform, storing and sharing data, references, and analysis results
- Genomic (SNP, VCF, imputed, etc.), phenotype, pedigree (family), omics, and variant annotation data collections
- File storage for NGS data (BAM, FASTQ) as well as patient data (images, PDFs, reports)
- Audit trail of data changes, user permissions, and other events compatible with regulatory requirements)
BC|RQUESTas a private service enables availability queries and aggregated analysis on biobanks or internal data silos through a simple web interface for query building and analysis creation. Additionally, BC|RQUEST gives biobanks tools to manage their research project portfolio and research user capability to request and follow projects through integrated tools.
- Filtering and building biobank lists based on defined data collection attributes
- Availability query building based on demographic, phenotypic and genomic data
- Functions for applying and giving access to individual level data for research project organization
- API for performing availability queries, running statistical genomics analysis, and submitting and monitoring individual level data access applications
BC|RQUESTcan integrate multiple data sources through the secure BC|LINK based architecture.
- Storing phenotypic and genotypic data for BC|RQUEST queries
- Pulling jobs from the BC|RQUEST server without opening firewalls
- Running genomic analysis (e.g. PLINK) when answering BC|RQUEST queries
- Keeping track of all executed queries for specific data sources as local audit trail
BC|GENOMEis a data management and analysis platform for clinical genomic data production for healthcare organisations and genomics labs. Data is collected and stored on the platform, and users have access to data and tools through an application account. All common data types for NGS, Genotype, and variant analysis can be managed on the platform. BC|GENOME scales up from starting a clinical genomics lab to massive high-throughput lab environments. The platform supports with BC|PIPE products both NGS and Genotyping data analysis.
- Capability to integrate with local infrastructure (LIMS, instruments)
- Configure used pipelines to local needs (e.g. using customer-specific reference panel)
- Possibility to parameterize and automate workflow execution
- Platform with full traceability and repeatability for clinical use
Pioneering Trusted Research Environments and Federated Data Analysis
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