Therapeutic areas

Rare and hereditary diseases

We offer a comprehensive solution for hereditary and rare disease data that detects both commonly accessible variants and relevant challenging variants such as mid-sized deletions, Alu elements and larger structural rearrangements.

Seeing that exome and whole genome analysis is increasingly used, interpretation tools need to be able to narrow a large candidate variant list to a shortlist of medically relevant candidates. To achieve this, especially in the case of exome or WG data, we offer both ACMG variant classification and SeqOne’s proprietary HPO-aware variant ranking. A wide variety of public domain and commercial annotation databases such as OMIM are also included and are updated on a regular basis. Furthermore, our GenomeAlert tool automatically checks your previous analyses and flags those that might be significantly impacted by variant annotation changes.

Our exome and WGS support include both single patient and multiple family member analyses. We offer high-resolution exome and WGS CNVs that capture events ranging from 50 bases to chromosome level, providing a fast and cost-effective alternative to traditional techniques such as MPLA and micro-arrays.

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Hereditary cancer predisposition

Analyzing hereditary cancer requires precise identification of key variants and CNV’s as well as the right annotation resources to identify significant mutations. We offer a complete bioinformatic analysis solution to detect each type of variant: SNPs, Indels CNVs and mid-sized deletions. The platform also offers a number of tools to help categorize variants including annotation databases, automated ACMG scoring and a machine-learning-driven automatic variant ranking.

The VKB (Variant Knowledge Base) facilitates the sharing of variant information within your team as well as providing the option to import your own annotation databases.

NOTE: Privacy is of key importance. VKB data is never shared outside of your organization.

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Somatic cancer

Genetic cancer analyses are particularly challenging due to the huge number of de novo variants and the need to combine DNA and RNA data in some cases. This requires a unique set of interpretation tools and specifically tuned bioinformatics.

SeqOne provides a unified view of all variants associated with the set of actionable “hotspots” specific to each cancer type. This hotspot view can merge DNA and RNA-seq results into a single unified view. A more detailed view permits comprehensive exploration of the genomic sample to address more complex cases.

We created a set of bioinformatic tools that are optimized for low allele frequency variants, support for molecular barcoding (UMI’s) and can isolate difficult-to-identify variants and biomarkers such as microsatellite instability (MSI), somatic CNV’s, gene fusions and Tumor Mutational Burden (TMB). The tools also support the comparison between healthy and tumoral samples.

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Custom solutions and genetic screening

The SeqOne core environment streamlines the development of new high-performance bioinformatic applications.

One example is a large-scale COVID-19 test developed by SeqOne in less than 90 days. The test can be customized to accommodate most DNA and RNA-based screening requirements in a matter of weeks.

Contact us if you want to find out more about our custom application or screening test possibilities.

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