QIAGEN and BGI Tech Solutions Co., Ltd. (BGI Tech), a subsidiary of BGI have entered into a distribution and service agreement for the Human Gene Mutation Database (HGMD®) in Greater China. Under the agreement, BGI Tech will serve the Chinese market including providing first level support for the database.
In recent years, next-generation sequencing (NGS) has provided significant impetus for scientific progress, which is expected to have a positive impact on clinical research and medicine. By far the biggest challenge for today’s research is the processing, analysis and interpretation of the raw sequencing data.
HGMD is a unique resource providing comprehensive data on human inherited disease mutations for genetics and genomic research. It enables quick access to both single mutation queries and advanced search applications. Offered by BIOBASE, a QIAGEN company, HGMD is assembled by highly qualified subject-matter experts and organized in an accessible and easily searchable manner that enables scientists and clinical labs to identify connections between disparate pieces of information and apply that knowledge. It is widely used in human genetics research, diagnostics, and personal genomics applications and was an essential tool in analyzing the genomes assembled by the 1000 Genomes Project. Earlier this year, QIAGEN announced the expansion of its industry-leading portfolio of bioinformatics solutions with additional content from BIOBASE. Expert-curated hereditary variants from HGMD are now available to customers using QIAGEN’s Ingenuity Variant Analysis
Key features of HGMD include:
• 152,000+ mutation reports including specifics on genome coordinates, sequence details, and links to the source reference as well as public resources like dbSNP and OMIM
• 5,300+ summary reports listing all known inherited disease mutations for a given gene characterized by six different pathogenic variant classes
• Advanced search functionality, including the ability to find mutations based on the type of nucleotide or amino acid change, or their location in a specific motif, splice site, or regulatory region
• A mutation visualization tool which provides a graphical representation of the aligned DNA and protein sequences with color-coded mutated nucleotides for a selected gene
• Ability to export customized mutation tracks for use in third-party genome browsers and analysis tools
Being a subsidiary of BGI, the world’s largest genomics research institute, BGI Tech provides advanced multi-omics and bioinformatics service solutions for its global customers in biomedical, agricultural, and environmental areas. To date, BGI Tech has offered premier services to more than 10,000 research institutes and 30,000 scientific partners. With this agreement, diagnostics labs, hospitals, pharmaceutical corporates, research and academic institutions in Greater China can benefit from the unique resource of HGMD through the services provided by BGI Tech.
“Known for their outstanding contributions to science, BGI is committed to excellence in everything they do, and want only the best-in-class solutions for their customers. Assessing mutations is an important need for many of their customers, so it is logical for them to represent HGMD. New and existing HGMD customers in Greater China will benefit from local support and from a distributor with deep subject-matter expertise.” said Frank Schacherer, CTO of BIOBASE.
“This is a win-win collaboration for both of us. BGI Tech dedicates to accelerating scientific progresses in biomedicine, agriculture, and environment. Collaborating with QIAGEN can enrich our scientific strengths in the fields of human genetics and complex diseases, and enable us to provide better services for our global collaborators.” said Yingrui Li, CEO of BGI Tech.
Today, there are more than 15,000 users worldwide that rely on QIAGEN’s bioinformatics products for interpretation. They have processed more than a quarter of a million genome sequences. Following the acquisitions and integration with Ingenuity Systems, CLC Bio and BIOBASE, QIAGEN has expanded its world leadership with the most comprehensive, high-quality and up-to-date literature source for clinical research and diagnosis – further strengthening its market-leading position in the analysis and interpretation of sequencing data. In China, QIAGEN started the footprint in the bioinformatics area in 2013 by initiating QIAGEN (Suzhou) Translational Medicine Research Co., Ltd., China’s first R&D company focusing on translational medicine.