With budgets and timelines tighter than ever, there is a growing need for more efficient workflows in laboratories. At the same time, there is increasing interest in analyzing copy number variation (CNV) from NGS data.
Agilent OneSeq Target Enrichment offers a simple, streamlined, cost-effective solution for detecting single gene mutations, CNVs, and aneuploidies in one assay. Compared to WGS, which is costly and generates overwhelming amounts of data, OneSeq is the ideal choice for a more cost-effective and targeted solution. The OneSeq target enrichment kits are based on the Agilent SureSelect technology, and consist of a set of backbone baits for genome-wide copy number change detection by comparing an experimental sample to a known reference sample. The majority of the baits target genomic regions with high minor allele frequency SNPs, allowing for the detection of cnLOH and UPD. Additional baits that target specific regions of interest allow for the detection of mutations and indels.
The catalog OneSeq Constitutional Research Panel is a 28 Mb design. It includes baits (12 Mb) for a functional copy number resolution of 300 kb and cnLOH resolution of 5 Mb in the genome-wide backbone, and a higher 25–50 kb resolution in disease-associated ClinGen regions. It also includes all content (16 Mb) from the Agilent SureSelect Focused Exome Panel targeting disease-associated genes. The OneSeq CNV Backbone + Custom Panel allows for the addition of the genome-wide backbone to any custom target gene panel, up to 12 Mb, using Agilent SureDesign, a free web-based design application.
Agilent’s SureCall software enables the analysis, visualization and contextualization of OneSeq data using a single application—without the need for coding or special hardware.