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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.

The Scan

Study Links Genetic Risk for ADHD With Alzheimer's Disease

A higher polygenic risk score for attention-deficit/hyperactivity disorder is also linked to cognitive decline and Alzheimer's disease, a new study in Molecular Psychiatry finds.

Study Offers Insights Into Role of Structural Variants in Cancer

A new study in Nature using cell lines shows that structural variants can enable oncogene activation.

Computer Model Uses Genetics, Health Data to Predict Mental Disorders

A new model in JAMA Psychiatry finds combining genetic and health record data can predict a mental disorder diagnosis before one is made clinically.

Study Tracks Off-Target Gene Edits Linked to Epigenetic Features

Using machine learning, researchers characterize in BMC Genomics the potential off-target effects of 19 computed or experimentally determined epigenetic features during CRISPR-Cas9 editing.