Roche NimbleGen SeqCap EZ MedExome Target Enrichment Kit

Roche NimbleGen has globally launched the SeqCap EZ MedExome target enrichment kit, a comprehensive whole-exome sequencing solution designed to increase the discovery and detection of human genetic variants associated with disease while reducing sequencing costs. The design targets the genome assembly GRCh38/hg38 (coordinates for hg19 annotation are also available) with comprehensive sequencing coverage of medically relevant 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, Roche NimbleGen noted. SeqCap EZ MedExome produces greater than 85 percent on-target rate, and demonstrates high uniformity across the targeted region with about 98 percent sensitivity for SNP detection and greater than 99 percent specificity for SNP allele classification, according to Roche.