Experience Precise SNV, INDEL, and CNV Detection in a Single Assay

Cell3™ Target: Nexome goes beyond standard exome sequencing by targeting both protein-coding and clinically relevant non-coding regions of the genome. With enhanced probe design, this exome capture technology enables high-confidence CNV detection, ensuring comprehensive genomic analysis.

Key Features

Extensive Coverage

Targets 51.9 Mb of the genome, surpassing conventional exome panels

Accurate Variant Detection

Optimized for SNVs, INDELs, and CNVs with superior recall rates

Clinically Relevant Enhancements

Includes genes linked to prenatal diagnosis, epilepsy, and pharmacogenomics (PGx)

Optimized for Efficiency

Detects up to 30% more variants without increasing sequencing costs

Automatable Workflow

Streamlined protocol with high-throughput processing capability for up to 96 samples

Comprehensive Genetic Insights for Clinical Applications

• Exon-level deletions and duplications, commonly detected by MLPA-based assays
• Genes associate with prenatal abnormalities, aiding in prenatal diagnostics
• Early Infant Epileptic Encephalopathy (EIEE) transcripts, enhancing epilepsy diagnosis
• RefSeq transcripts, promoter regions, 5′ and 3′ UTR sequences corresponding to OMIM morbid set of 4,090 genes
• Non-coding variants linked to genetic diseases, providing a broader scope of analysis
• Pharmacogenomic (PGx) markers, improving drug response predictions

Unmatched Precision in SNV and INDEL Detection

Cell3™ Target: Nexome outperforms competing exome panels in detecting true variants within the HG001 human genome standard reference, ensuring exceptional accuracy and recall.

• Higher True Variant Detection
  Consistently identifies more SNVs and INDELs than leading competitors
• Maintains Superior Precision
  Delivers high accuracy for clinically relevant mutations

SNV

INDELS

Cost-Effective, High-Yield Exome Sequencing

Broader Variant Capture

Cell3™ Target: Nexome maximizes sequencing efficiency, requiring just 6.63 Gb to achieve a 100× mean coverage, reducing unnecessary sequencing costs.

• Detects 30% more variants compared to traditional exome kits
• Targets over 51 Mb of the human genome

Table 1 Mb required to achieve mean coverage of 100× for Cell3™ Target: Nexome and other commercially available exome products.

Reliable CNV Calling

Copy number variants (CNVs) account for approximately 10% of disease-associated variants and have been identified in about 10-20% of individuals with neurodevelopmental disorders.

• Spanning 100 bp to 40 Mb, confidently detecting exons and gene-level CNVs
• Evaluated through MLPA and CMA-confirmed CNV mutations from 50 bp (a single exon) to 42 Mb

• Detection of clinically relevant events is achieved with superior precision and recall and provides an exome alternative to CMA and MLPA based CNV analysis

Table 2a Detection of MLPA-confirmed CNVs.

Table 2b Detection of CMA-confirmed multi-gene CNVs.

Seamless Automation & Scalable Laboratory Processing

Designed for efficiency and flexibility, Cell3™ Target: Nexome simplifies sequencing workflows

• The Cell3™ Target: Nexome kit includes all the necessary reagents for library preparation, hybridization, and capture
• Total Workflow Time
  Less than 10 hours (under 2 hours of hands-on time)
• Minimal Input DNA Requirement
  Only 1 ng of DNA needed
• Automation-Ready
  Supports manual and high-throughput workflows (up to 384 samples)
• Compatibility
  Full scalable across all Illumina sequencing platforms

References

1. McKusick V. Online Mendelian Inheritance in Man, OMIM™. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000. Accessed October 10, 2023. https://omim. org. 2009. Full article
2. Smedley D, Schubach M, Jacobsen JO, Köhler S, Zemojtel T, Spielmann M, et al. A whole-genome analysis framework for effective identification of pathogenic regulatory variants in Mendelian disease. The American Journal of Human Genetics. 2016; 99(3):595-606. Full article
3. Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Research. 2018;46(D1):D1062-7.. Full article