SeqOne S.A.S. services

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.

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.

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 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.