Overview

An integrated approach to sample preparation, for applications such as whole exome sequencing, encompassing all the steps required to convert a sample to a sequencing-ready library is beneficial in your research considering the precious nature of NGS samples. Therefore, we offer Roche Sample Prep Solutions, from sample collection to library quantification for different sample types and sequencing applications that are provencomplete and simple.

The SeqCap® EZ MedExome Probes target the human exome (HRCh38/hg38, coordinates for hg19 annotation are also available) with enhanced exon coverage for medically relevant genes. The MedExome design has been extensively optimized using empirical rebalancing to increase coverage in low coverage regions for a more uniform representation of the human exome. 

Benefits of SeqCap EZ MedExome Probes

  • >85% on-target rate with high uniformity across the targeted region*
  • ~98% sensitivity for SNP detection and >99% specificity for SNP allele classification*
  • Compatibility with the mitochondria-specific design to extend exome coverage
  • Ability to add up to 200 Mb of user-defined custom regions to the existing MedExome design with the SeqCap EZ MedExome Plus configuration
  • Combine with KAPA's library preparation products to create the HyperCap Workflow v2.0 for a fully integrated sample preparation solution.

Product Highlights

Focus on genomic regions that really matter

  • Utilize a whole exome solution with exceptional exon coverage of genes from CCDS, RefSeq CDS, Ensembl, GENCODE, miRBase, VEGA and OMIM and maximal coverage for regions of medical relevance 
  • Obtain greater than 98% bases covered at >20X depth for disease-associated genes*

Call variants with confidence

  • Detect SNPs with 98% sensitivity and 99% specificity for SNP allele classification*
  • Obtain high uniformity across targeted regions with ~99% specificity*

Design Files

The design and annotation files provide information about genomic regions covered by the capture probes and the genes included in these regions.

The SeqCap EZ MedExome Probes was designed to cover exons from from the following annotation sources: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.

The total design size is 47Mb of capture target space; 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.

Download Design Files  for the SeqCap EZ MedExome Probes

Download Design Files  for the SeqCap EZ MedExome Probes used with mitochondrial genome design.

Demo Data

Demo data is available for evaluation. Please contact Roche representative for your country. 

  *Data on file.