New Genomic Research Kit Simplifies Exome Studies

The exome is defined as all coding exons in the genome and is comprised of the most functionally relevant and best understood 1% of the human genome. Targeted sequencing is a powerful technique allowing researchers to focus their analysis on this critical portion of the genome.

Roche NimbleGen (Madison, WI, USA) has announced the release of its SeqCap EZ MedExome Target Enrichment Kit. This 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 kit produces greater than 85% on-target rate, demonstrates high uniformity across the targeted region with better than 98% sensitivity for SNP detection and greater than 99% specificity for SNP allele classification. Additionally, the SeqCap EZ MedExome kit is compatible with a mitochondria-specific design which enables extended exome testing in cases where the mitochondria are of interest.

SeqCap EZ products enable a revolutionary process for the enrichment of selected genomic regions from full complexity human genomic DNA in a single step. Developed to eliminate the necessity of setting up thousands of PCR reactions, Sequence Capture allows for parallel enrichment of target regions in a single experiment.

"The release of the SeqCap EZ MedExome Target Enrichment Kit is an example of Roche Sequencing's commitment to further the evolution of genomic medicine," said Rebecca Selzer, president of Roche NimbleGen. "Immense interest in this design from our customers worldwide led to initiation of an early product evaluation process resulting in more than 40 evaluations across 11 countries globally prior to launch. This technology puts some of the most powerful tools of modern genomics to use in more laboratories around the world and is an invaluable asset in furthering the research of disease-associated mutations, while minimizing the need for costly retesting and follow-up sequencing."

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