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.
Constitutional – Hereditary – Rare disease
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.
-
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 disease – Cancer
SeqOne’s somatic Worksets are designed to deliver optimum performance in a variety of clinical areas including solid tumours and haematological cancers. The Worksets feature support for UMIs and circulating tumour DNA (ctDNA) as well as determination of TMB and MSI scores. Both DNA and RNA analyses are available.
-
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 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.