Overview

SeqCap® EZ Prime Exome targets the GRCh38/hg38 genome and has a compact capture target of 37 Mb. The 2.1 million overlapping probes are tiling 98.1% of the coding regions based on the latest CCDS Rel.20.1 To enable you to easily track samples throughout the workflow, the design also includes a unique sample-intrinsic identification method with 340 informative SNPs. SeqCap EZ Prime Exome is available as part of the Roche Sequencing Solutions’ Design Share portfolio

Features and Benefits of SeqCap EZ Exome

  • Obtain uniform and comprehensive exome coverage (96.3% of the primary target at 20x depth with only 40M high-quality reads) to minimize sequencing costs
  • Utilize a complete solution from a single vendor with the HyperCap® Workflow, an optimized protocol delivering consistent performance from sample prep to sequencing in 1.5 days
  • Track samples with SNP targets included in the design to eliminate the need to spike in a sample identification panel so you can have increased confidence from sample traceability

Product Highlights

High sequencing efficiency

  • Optimized to deliver both high uniformity and high on-target rate
  • Minimizes the need for additional confirmation with at least 96% coverage of target bases at ≥20x with 20 M 2 x 100 bp read pairs from only 100 ng of input DNA

Broad coverage of relevant medical-research content

  • Higher sequencing coverage of ACMG,1 ClinVar2 and medical-research relevant targets3 compared to another supplier’s exome
  • Better coverage with 27% less sequencing than another supplier’s exome

Enhanced sample tracking with SNPs for confidence in results

  • Targets 340 informative SNP positions that may be used as a sample intrinsic unique identification method, to allow sample tracking throughout the testing workflow
  • The SNP positions have been selected based on literature4 and customer feedback
  • Enables accurate and convenient sample tracking and delivers high overall SNP detection performance

SeqCap EZ Prime Exome is a part of the Roche Sequencing Solutions’ Design Share Portfolio. Design Share makes it easy to access pre-designed NGS panels that are developed by Roche Sequencing Solutions or in collaboration with researchers around the world.

Other panels include:

Access the other Design Share portfolio to view other exome products.

References

  1. Kalila SS, Adelman K, Bale SJ, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017 Feb; 19(2):249-255.
  2. https://www.ncbi.nlm.nih.gov/clinvar/
  3. As selected by GeneTests™.
  4. Pengelly RJ, Gibson J, Andreoletti G, et al. A SNP profiling panel for sample tracking in whole-exome sequencing studies. et al. 2013 Sep 27;5(9):89.