Genomics England uses QIAGEN’s Gene Mutation Database for 100,000 Genomes Project

Genomics England has selected QIAGEN’s HGMD^® Human Gene Mutation Database for its 100,000 Genomes Project. HGMD is the leading content knowledgebase for interpretation of genomic data in hereditary and rare diseases, providing a deep resource of expertly curated data from the world’s scientific and clinical literature.

The 100,000 Genomes Project will use QIAGEN’s HGMD Online Professional solution, which is part of the QIAGEN Clinical Insight (QCI) portfolio of solutions for the interpretation of complex genomic data, to support scientists, clinicians and researchers in 13 NHS Genomic Medicine Centres for clinical reporting and interpretation.

“Rare and hereditary diseases can lock patients, families and healthcare providers in a long, difficult diagnostic odyssey, and 100,000 Genomes is a cutting-edge NHS program to gather and analyze whole genomes from a large cohort of patients in search of causes and future treatments,” said Dr. Laura Furmanski, Senior Vice President and Head of QIAGEN’s Bioinformatics Business Area. “We are honored to deepen our collaboration with Genomics England. QIAGEN’s industry-leading bioinformatics solutions, including cloud-based HGMD content, will help 100,000 Genomes derive actionable insights from a massive pool of next-generation sequencing data. We are pleased to be selected.”

“We are delighted to work with QIAGEN’s bioinformatics solutions as a comprehensive resource for manually-curated analysis and interpretation content. 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,” said Dr. Augusto Rendon, Director of Bioinformatics for Genomics England.

Genomics England was established by the U.K. 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.