SeqCap EZ MedExome

SeqCap_EZ_MedExome_WebBanner_090915_R2

Product Overview

The SeqCap EZ MedExome Target Enrichment Kit incorporates innovative probe design approaches and improved molecular methodologies to deliver a comprehensive whole exome sequencing solution for human genome analysis with enhanced coverage of disease-associated regions.

SeqCap EZ MedExome Product Listing
Description

Catalog Number

Pack Size

SeqCap EZ MedExome Enrichment Kit

07676581001

4 Reactions

SeqCap EZ MedExome Enrichment Kit

07681330001

48 Reactions
SeqCap EZ MedExome Enrichment Kit 07681348001 384 Reactions
SeqCap EZ MedExome Enrichment PLUS Kit 07681364001 48 Reactions

Please Contact Us for ordering and questions.

NEW! SeqCap EZ HyperCap Workflow User's Guide v1.0

The SeqCap EZ system can now be used with the SeqCap EZ HyperCap Workflow. The HyperCap workflow provides an integrated, application-specific approach for efficient, streamlined and automatable targeted sequencing solution. It combines high-efficiency KAPA Hyper Prep and KAPA HyperPlus Library Preparation Kits with performance-optimized SeqCap EZ capture protocol.

For life science research only. Not for use in diagnostic procedures.

Product Description

The SeqCap EZ MedExome Kit is a new exome solution that queries the entire human exome with enhanced coverage for exons of disease-associated gene regions. The design targets the genome assembly GRCh38/hg38 (coordinates for hg19 annotation are also available) with comprehensive sequencing coverage of medically-relevant regions and protein coding regions. The product has been extensively optimized in design, empirical rebalancing, and manufacturing to increase coverage in hard-to-sequence regions for a more uniform and complete exome. 

The SeqCap EZ MedExome product produces greater than 85% on-target rate, demonstrates high uniformity across the targeted region with ~98% sensitivity for SNP detection and >99% specificity for SNP allele classification.

Additionally, the SeqCap EZ MedExome product is compatible with a mitochondria-specific design which enables extended exome testing in cases where mitochondrial etiologies may be implicated.

In the SeqCap EZ MedExome PLUS configuration, the product offers the ability to add up to 200 Mb of user-defined custom regions to the existing Medexome design.

MedExome Annotation

Benefits

  • Focus on genomic regions that really matter
    • Utilize a whole exome solution with exceptional coverage of genes from CCDS, RefSeq CDS, Ensembl, GENCODE, miRBase, VEGA and OMIM and maximal coverage for regions of medical relevance
    • Add up to 200Mb of user-defined content with the SeqCap EZ MedExome PLUS configuration
  • Call variants with confidence
    • Obtain greater than 98% bases covered at >20X depth for disease-associated genes 
    • Detect SNPs with 98% sensitivity and 99% specificity for SNP allele classification 
  • Gain greater efficiency at minimal cost 
    • Reduce sequencing cost with fully validated and supported multiplexing protocols
    • Minimize  retesting and follow-up sequencing with uniform sequence coverage

Performance of the SeqCap EZ MedExome Kit

Coverage of MedRel

Figure 1: Coverage of medically-relevant regions targeted by the SeqCap EZ MedExome Kit
The figure demonstrates percent depth of coverage, sensitivity of SNP detection and specificity of SNP classification for the medically-relevant region of the design. The product is designed to provide sequencing coverage for regions defined as medically relevant, including GENE Tests™CDS (excluding mitochondrial genes), ClinVar, coding sequence from the set of ~4600 genes identified by the consortium of the Emory Genetics Lab, Harvard Laboratory of Molecular Medicine, and Children's Hospital of Philadelphia (CHOP) and additional regions deemed as medically relevant based on customer input. 

Experiment Information: Sample prep and capture followed SeqCap EZ SR User's Guide v5.1. A total of 54-individual libraries were tested for the above experiments. Sequencing was performed on an Illumina® HiSeq 2500 System with v3 chemistry in rapid run mode. Reads are 2x101bp in length. Sequencing reads were randomly subsampled to 60 million reads for performance assessment.

Performance of MedExome

Figure 2: Performance of the SeqCap EZ MedExome Target Enrichment Kit
The SeqCap EZ MedExome kit queries the entire exome, while providing sufficient depth of coverage, to call variants with confidence. The design targets the most up-to-date genomic annotation (GRCh38/hg38) with comprehensive sequencing coverage of medically-relevant regions and protein coding regions. The product has been extensively optimized through empirical rebalancing to increase the coverage in hard-to-sequence regions for a more uniform exome.

Experiment Information
Sample prep and capture followed SeqCap EZ SR User's Guide v5.1. A total of 54-individual libraries were tested for the above experiments. Sequencing was performed on an Illumina® HiSeq 2500 System with v3 chemistry in rapid run mode. Reads are 2x101bp in length. Sequencing reads were randomly subsampled to 60 million reads for performance assessment.

Design Files

The design and annotation files provide information about genomic regions covered by the capture probes and the genes included in these regions. These files were designed for use with the Roche NimbleGen SeqCap EZ MedExome Target Enrichment System. 

Overview

The SeqCap EZ MedExome Kit was designed to provide sequencing coverage for the gene annotation sources from CCDS 17, RefSeq CDS August 2014, Ensembl 76 CDS (biotype filtered), VEGA 56 CDS, GENCODE 20 CDS and miRBase 21. The design also includes coverage for regions defined as medically relevant, including GeneTests CDS (excluding mitochondrial genes), ClinVar, coding sequence from the set of ~4600 genes identified by the consortium of the Emory Genetics Lab, Harvard Laboratory of Molecular Medicine, and Children's Hospital of Philadelphia (CHOP) and additional regions deemed as medically relevant based on customer input. The genome assembly coordinates are based on the UCSC human genome build hg38, though hg19 files are also provided.

Design Files

Total design size is 47Mb capture target. The capture targets BED file shows the capture probe footprint. The UCSC Browser BED files are provided for upload as a custom track. All design files are provided in the original hg38 genome assembly and also converted to hg19 genome assembly. Conversion was performed using the NCBI Genome Remapping Service.




Demo Data

Demo data is available for evaluation of the SeqCap EZ MedExome Kit.

Please contact your country Roche representative

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