QIAGEN hereditary and rare disease solution chosen by Genomics England
Bioinformatics content knowledge base will enable interpretation for 100,000 Genomes Project
Hilden, Germany, and London, United Kingdom, January 30, 2017 – QIAGEN N.V. (NASDAQ: QGEN; Frankfurt Prime Standard: QIA) today announced that 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. For more details, visit http://www.genomicsengland.co.uk/.
QIAGEN Bioinformatics offers a portfolio of industry-leading solutions for the analysis, interpretation and reporting of biological data. Products include Ingenuity, CLC bio and OmicSoft software and databases. As part of the QIAGEN Knowledge Base, HGMD is the gold standard for expertly curated content from peer-reviewed publications on human inherited disease mutations. HGMD has been cited in more than 5,000 scientific publications. For more information, please visit http://www.qiagenbioinformatics.com.
QIAGEN N.V., a Netherlands-based holding company, is the leading global provider of Sample to Insight solutions that enable customers to gain valuable molecular insights from samples containing the building blocks of life. Our sample technologies isolate and process DNA, RNA and proteins from blood, tissue and other materials. Assay technologies make these biomolecules visible and ready for analysis. Bioinformatics software and knowledge bases interpret data to report relevant, actionable insights. Automation solutions tie these together in seamless and cost-effective workflows. QIAGEN provides solutions to more than 500,000 customers around the world in Molecular Diagnostics (human healthcare), Applied Testing (forensics, veterinary testing and food safety), Pharma (pharma and biotech companies) and Academia (life sciences research). As of September 30, 2016, QIAGEN employed approximately 4,700 people in over 35 locations worldwide. Further information can be found at http://www.qiagen.com.
About Genomics England
Genomics England is a company owned by the Department of Health and was set up to deliver the 100,000 Genomes Project. This flagship project will sequence 100,000 whole genomes from NHS patients and their families.
Genomics England has four main aims:
- to bring benefit to patients
- to create an ethical and transparent programme based on consent
- to enable new scientific discovery and medical insights
- to kickstart the development of a UK genomics industry
The project is focusing on patients with rare diseases, and their families, as well as patients with common cancers. For more information visit www.genomicsengland.co.uk.
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