Agilent Technologies enhances exome sequencing for clinical research

New target enrichment product delivers deep coverage of disease relevant content

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Agilent Technologies Inc. introduced a new target enrichment solution for next-generation DNA sequencing. Agilent SureSelect Clinical Research Exome V2 delivers more than 1,000 additional, disease relevant targets compared to the company's earlier version of the product. This is the newest addition to Agilent's NGS solution for human genetics which includes a range of exome and panel designs, library preparation reagents and unlimited custom options.

It is the only exome on the market today that delivers a curated, annotated list of included genes, as well as evidence for disease relevance.

Built on the proven performance of Agilent's industry-leading target enrichment technology, the SureSelect Clinical Research Exome V2 provides enhanced coverage of an additional 1,099 disease-associated genes, over 75,000 splice sites of noncoding exons, over 12,000 previously reported deep intronic variants, and over 800 variants in promoter regions. With its larger design, the SureSelect Clinical Research Exome V2 contains more pathogenic/likely pathogenic variants than other exomes in the market today. It also enables researchers to discover and identify new disease-associated targets.

These targets were identified through an exhaustive curation effort led by Emory University and the Children's Hospital of Philadelphia, both of whom were also collaborators for the first version of the product.

"The goal of the project was to create a highly curated gene resource and a technically optimized assay to provide a stepping stone for standardizing interpretation of genetic variations to fulfill the promise of genomic medicine," said Madhuri Hegde, adjunct professor of Human Genetics at Emory.

 

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