Confidently call all variants including SNVs, indels and CNVs with high precision and recall

Validate and run one workflow for profiling known genetic associations for hereditary cancers regardless of cancer type or input amount

Generate more sequence per sample with high on-target rates, superior uniformity of coverage and low levels of duplication

Hereditary cancers account for around 5-10% of all cancers1 and include cancers of the breast, ovary, uterus, prostate, and gastrointestinal system, which includes the stomach, colon, rectum, small bowel, and pancreas.

Genetic testing to identify an inherited variant associated with cancer can provide a cancer risk assessment for an individual and guide the implementation of additional screening and surveillance if necessary. This in turn may result in an early diagnosis and help guide treatment.

As well as helping improve outcomes for patients diagnosed with hereditary cancer, testing for inherited variants associated with cancer may also help guide additional screening and early diagnosis of at-risk relatives.

By using a multi-cancer panel to screen for germline mutations, researchers can profile known genetic associations for hereditary cancer regardless of cancer type. This maximises diagnostic yield for individuals with a personal or family history of mixed cancers affecting multiple organ systems or those with an unknown family history.

Table 2. Nonacus Cell3™ Target Hereditary Cancer Panel confidently calls CNVs with 100% recall and precision.

Table 2 shows the precision and recall for a range of CNVs in the MLH1/MSH2 Exon Copy Number Reference Panel (NIBSC) detected with the Nonacus Cell3™ Target: Hereditary Cancer panel and Nonacus analysis pipeline. All CNVs were detected with 100% recall and precision.

The Cell3™ Target Hereditary Cancer panel design delivers a higher percentage of on-target reads (with padding at 150bp) when compared with a leading competitors panel.  Even more importantly, the Nonacus panel also resulted in lower duplication rates and more consistent vertical coverage with 98% of targets covered with 30 reads of more (Table 3).  This high uniformity of coverage combined with a low duplication rate and high percentage of on-target reads delivers exceptional performance resulting in less wasted sequencing.

Table 3. Performance data for the Nonacus Cell3™ Target Hereditary Cancer Panel compared with a leading competitor panel.

Table 4. Estimated maximum number of samples per flow cell to achieve 100x mean depth of coverage based on 2 x 150bp PE sequencing calculated based on data obtained in Table 3. 

The impact of effective hybridisation and capture on sequencing efficiency can be seen in Table 4. Laboratories can run 50% more samples per flow cell or generate more sequencing data per sample than the leading competitors product.

Rather than running multiple panels to cover different cancer syndromes, the Cell3™ Target Hereditary Cancer panel enables laboratories to validate and run just one workflow for profiling all hereditary cancer types. In addition to maximising diagnostic yield, this simplifies laboratory workflows reducing laboratory validation and operating costs.

The Cell3™ Target workflow is simple and easy. Taking less than 10 hours, with less than 2 hours hands-on time, it is designed with multiple stop points to provide flexibility within laboratory processing. Library preparation can be run manually or automated (up to 96 samples in a single batch).

Indexes are available for up to 384 samples to allow for flexible batch sizes and scalability across all Illumina benchtop sequencers.