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Genomics England to Use Qiagen Mutation Database in 100K Genomes Project

NEW YORK (GenomeWeb) – Qiagen said today that Genomics England will use Qiagen's HGMD Human Gene Mutation Database for its 100,000 Genomes Project.

The project will specifically use Qiagen's HGMD Online Professional product, which is part of the company's Clinical Insight portfolio for the interpretation of complex genomic data. Genomics England will use the product to aid scientists and clinicians in 13 National Health Service Genomic Medical Centres with clinical reporting and interpretation.

Genomics England was established by the UK Department of Health in 2013 with the aim of sequencing 100,000 whole genomes from NHS patients and family members affected by rare genetic diseases, as well as common cancers.

"We are delighted to work with Qiagen's bioinformatics solutions as a comprehensive resource for manually curated analysis and interpretation content," Augusto Rendon, director of bioinformatics for Genomics England, said in a statement. "High-quality interpretation of genomic data in the 100,000 Genomes Project will provide deeper insights into rare inherited diseases, and ultimately lead to more diagnoses and tailored treatments for patients."