SeqOne -Integrated Genomic Analysis Solution
The integrated genomic analysis solution that delivers accurate results with increased efficiency and fast turnaround times.
Data up-load
- Easy to use, secure web-based upload
- Optional automated data transfer (discover our SDS solution)
- Direct integration with sequencer and LIMS
- Validation of uploaded data
- Detailed quality report
- Base-by-base coverage verification
- Traceability of all events on the platform
- Configurable quality thresholds
- Artefact identification
- Somatic and constitutional pipelines
- Whole genome, exome or panel
- Challenging variant detection
- Single or multi-sample (family analysis)
- Intuitive, easy-to-use interface
- Machine learning variant scoring
- HPO-driven variant prioritization
- Automated ACMG classification
- Commercial versions of key annotation databases
- Powerful variant filtering
- Automatic import of interpreted variants
- Pre-filled, editable standard texts
- Customizable format
- Export to LIMS or EPR
- Clear, easy-to-understand format
We help you with regulatory compliance, offer methodologies to validate changes in your laboratory’s process and provide process quality control tools. Once you are up-and-running, our world-class support staff assists your team with their day-to-day activities.
Obtaining regulatory compliance is a necessary but increasingly complex part of any laboratory’s operations. SeqOne provides tools and support that make it easier to obtain and maintain these certifications.
- By choosing SeqOne, you will leverage a platform that is both CE-IVD and ISO13485 compliant
- The security of your data will be guaranteed by our platform hosted on ISO 27001 (HDS) compliant infrastructure
- To keep up with the latest bioinformatic developments, pipelines are regularly updated with the criteria provided to customers in the form of a report
- The platform logs all actions performed by users to ensure complete traceability, which is an essential requirement for certification
- Regular training sessions ensure that your team always has the information they need, to get the most out of the platform
- SeqOne’s team can participate in feedback discussions to address technical questions related to the platform and bioinformatics
SeqOne can provide documents that outline many of the certification requirements, which simplifies your team’s tasks and accelerates the certification process.
Laboratories often have to alter their processes in order to reflect the changing requirements and new technologies. Each modification requires re-validation of the process to ensure that results continue to meet expectations. SeqOne has a complete laboratory process validation program consisting of four key steps:
- Validation planning assistance
- Support in wetlab design and specification
- Sequencing run data analysis complete with wetlab design-optimisation recommendations
- Final validation report of the new method
Laboratory process validation involves a comprehensive evaluation of the analysis and interpretation process. This evaluation encompasses kit design, sample preparation operations (wetlab), sequencing, analysis and interpretation tools. SeqOne routinely provides detailed feedback to our customer’s wetlab supplier so that the panel design is optimized. SeqOne has experience working with most major wetlab providers in this way.
Process quality control involves systematic verification of each sample to ensure that it meets the minimum quality standards. To assist your team with this, we have developed several tools:
- File integrity checks to ensure that files are not corrupted during the upload.
- Identity tracking using genotyping, to verify that each sample matches the right patient.
- Coverage verification by run and by sample, including detailed base-by-base coverage checks.
- Detailed quality report for each sample.
- Logging of all user actions related to each sample, to ensure traceability.
- Agilent
- IDT
- Twist Biosciences
- New England Biolabs
- Roche
- Illumina
- Gene Panel
- Whole Exome Sequencing (WES)
- Whole Genome Sequencing (WGS)
- RNA-Seq
- Single Nucleotide Polymorphisms (SNPs)
- Insertion & Deletion (INDEL)
- Mid-sized INDEL (~100b)
- Panel/exome/whole genome Copy Number Variant (CNVs)
- Structural Variants (SV)
- Alu elements
- Multi Nucleotide Variants (MNVs)
- Anti-variants
- Microsatellite instability (MSI)
- RNA SNPs and INDEL
- RNA Gene Fusions
- Illumina
- PGM / Ion Torrent
- Oxford Nanopore (coming soon)
- fastq,
- BCL
- BAM
- VCF
- Clinvar
- COSMIC (commercial version)
- dbSNP
- dfam
- dgv
- GnomAD (exome and genome data; absolute values and percentages)
- OMIM (commercial version)
SeqOne understands the specific challenges when delivering clinical routine genomic analyses at scale. Bearing this in mind, we have developed functionalities that boost your team’s efficiency while improving the accuracy and relevance of the results.
Automated data upload
SDS SeqOne Data Sync: Optional local software module that automates data import from the sequencer and manages information flow between the secure SeqOne cloud and the user’s local data sources.
Quality control tools
Tools that provide detailed coverage information at the run, sample, exon and base-by-base level.
Data validation and identity tracking
A complete set of data validation tools and genotype-based identity tracking that reduces the risk of errors.
Catalog of bioinformatic applications
A set of applications each highly optimized for specific medical purposes, including their own data validation, quality control, bioinformatics and interpretation tools.
Visual interpretation environment
An easy to use interpretation environment that reduces the time it takes to analyze genomic data from hours to minutes.
ACMG Ranking
Automated ACMG ranking with the option for the user to override the ACMG tags assigned by the system, if required with new clinical data.
Integrated annotation databases
Access to the most popular public and commercial databases are included.
A.I.-driven variant prioritization
SeqOne Rank performs automated variant prioritization to ensure that most actionable variants are always at the top of the list.
HPO variant prioritization
Ability to integrate standardized HPO (Human Phenotype Ontology) data into the analysis which provides enhanced variant prioritization.
Open, secure, shared variant knowledge base
Variant knowledge base (VKB) lets your team collect and securely share knowledge regarding variants with full import and export capabilities.
Annotation change alert
The GenomeAlert! system monitors frequent updates to public annotation databases and notifies your team when these changes impact previously analyzed results.
In-silico panels
Allows you to select the genomic regions that you want to interpret by restricting the analysis to a user-defined manifest.
Manages all data types
Support for gene panels, exomes, whole genomes and RNA-seq data as well as meta-data such as phenotypes.
Automated clinical report generation
A clinical report “wizard” that automatically inserts relevant information into a pre-formatted, modifiable clinical report.
Traceability
The platform logs all information to ensure complete traceability of every analysis from raw data to the clinical report.
Ultra-secure, scalable architecture
An architecture built on the latest big data and PaaS (Platform as a Service) technologies with public/private key encryption, which ensures maximum performance and data security.