Genomics England chooses HGMD


QIAGEN Digital Insights

Genomics England chooses HGMD

We’re excited to report that Genomics England has selected our Human Gene Mutation Database (HGMD) for its 100,000 Genomes Project. HGMD is the leading content knowledge base 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 project 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. It will use HGMD Online Professional, 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.

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.

Dr. Augusto Rendon, Director of Bioinformatics for Genomics England

Read the press release