The right app for each medical requirement

We develop highly optimized bioinformatic apps that deliver medically actionable results

Worksets – SeqOne’s catalog of bioinformatic applications

Each medical condition presents specific challenges with unique data, bioinformatic and interpretation needs. Therefore, SeqOne includes a catalog of bioinformatic applications called “Worksets” to address these unique requirements.

A Workset includes application-specific data validation, an optimized bioinformatic pipeline, variant prioritization and an interpretation environment. The Worksets are built using SeqOne’s extensive bioinformatic research and development efforts which allow us to detect many challenging variants that are not found using standard bioinformatic tools. Other applications are developed in collaboration with our ecosystem of domain experts, who contribute their knowledge to the design of high performance clinical genomic analysis solutions.

The result? Regardless of the data complexity, your team will always have the most relevant and actionable information.

Using worksets to address patient needs

Worksets provide a flexible way to address the requirements of a broad spectrum of diseases.

Germline
DNA
Germline
CNV
Germline
Exome / WG
CNV
Germline
family
Somatic
DNA
Somatic
Healthy / Tumoral
DNA
Somatic
CNV
RNA Seq
CONSTITUTIONAL
Cancer predispositionxxxx
Hereditary diseasesxxxx
Rare diseasesxxxx
SOMATIC
Somatic solid tumour broad-spectrum cancer (large panel DNA / RNA)xxxx
Somatic solid tumour hotspotxxxx
Somatic solid tumor targeted cancer (large panel DNA / RNA)xxxx
Somatic hematological cancerxxx
Somatic cfDNA circulating DNAxx

Under the hood: Specific features of each Workset

Constitutional
  • Germline DNA analysis

    Detects both frequent and challenging constitutional variants, including Alu elements, mid-sized deletions and insertions and MNV’s in both capture and amplicon DNA samples. The Workset also offers machine-learning-driven variant prioritization and automatic ACMG ranking of all variants. The Workset can accommodate panel, exome or whole genome data.

  • Germline Family

    This is the multi-file version of the Germline DNA Workset designed for family analysis of hereditary and rare diseases. It supports the analysis of multiple germline samples (usually three samples consisting of the index case and the two parents) to better understand the role of inheritance in germline disease.

  • Germline WG/exome CNV

    Detects germline CNV in exomes and whole genomes capable of resolving variants down to 50 bases. Features an easy-to-use interface and annotation databases such as DGV, OMIM and ClinGen to identify pathogenic CNVs.

  • Germline CNV panel analysis

    Detects germline CNVs in DNA gene panel samples using the capture method with a resolution of less than 50 bases.

Somatic
  • Somatic DNA analysis

    Workset designed to analyze Somatic DNA panels regardless of the number of genes it covers. It detects somatic variants including SNVs, INDEL, Alu elements, mid-sized deletion / insertion / inversion (e.g. FLT3-ITD) and MNVs in DNA samples, prepared using either capture or amplicon methods. Its bioinformatic pipelines are tuned to detect variants with low allele frequencies (VAF) and it features a somatic-optimized variant prioritization algorithm. Further markers relevant to somatic analysis such as MSI, TMB and genomic mutational signatures will be released shortly.

  • Somatic CNV Capture analysis

    Detects somatic CNV in DNA samples prepared using the capture method with a resolution of less than 50 bases. The Workset is designed to reliably detect CNV’s in cohorts with high sample heterogeneity. Results are presented in a specifically designed interface that displays information on losses or gains grouped by gene.

  • Somatic Healthy vs. Tumoral comparative analysis

    Identifies somatic variants by differential analysis between DNA samples from healthy and tumor tissues.

  • Somatic RNA analysis

    Detects somatic variants (SNVs, Indel) and fusion genes in RNA samples prepared using the capture method.

SeqOne core environment

SeqOne’s core is a cloud-based, clinical grade compute platform, optimized to deliver up to a million genomic analyses per day. Its application-based architecture means that additional custom analyses can be developed quickly, building on the platform’s advanced functionality in areas ranging from secure data handling to advanced bioinformatics.

SeqOne offers not only Worksets and bioinformatics! We have developed many features to make your team more efficient.

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