HGMD: A view into comprehensive coverage

HGMD® is widely accepted as the gold standard for information about published inherited disease mutations, but what makes it such a great resource? In short, it’s HGMD’s comprehensive literature coverage. But what does comprehensive mean, and is it really a big deal? Comprehensive means identifying every published article that describes a germline mutation and assessing » Read More

Publication Roundup: HGMD

Publication Roundup: HGMD – QIAGEN Bioinformatics HGMD®, the Human Gene Mutation Database is used by scientists around the world to find information on reported genetic mutations. The papers below use the database to advance our understanding of disease, DNA dynamics, and more. Local DNA dynamics shape mutational patterns of mononucleotide repeats in human genomes First author: » Read More

Highlights from ASHG 2015

Highlights from ASHG 2015

ASHG 2015 was everything we hoped it would be: interesting and inspiring scientific presentations and a place to reconnect with friends and customers. When we weren’t manning a busy booth, our team had a wonderful time soaking in the latest and greatest in human genetics. Here is a recap of our scientific line up at the show: Tuesday » Read More

QIAGEN Launches New Bioinformatics Solution for Hereditary Diseases

BALTIMORE and HILDEN, Germany, October 5, 2015 – QIAGEN N.V. (NASDAQ: QGEN; Frankfurt Prime Standard: QIA) today announced the launch of a new QIAGEN hereditary disease solution for research labs to accelerate solve rates in diagnostic odyssey cases, while freeing up time and resources by enabling researchers to directly focus on the right causal candidates. The » Read More

QIAGEN agrees with BGI Tech to provide services based on the Human Gene Mutation Database (HGMD) in Greater China

The collaboration follows QIAGEN’s integration with BIOBASE earlier this year BGI Tech will provide services to the Greater China market with the widely used HGMD literature source The collaboration is QIAGEN’s next step forward in expanding in emerging markets Shenzhen, China and Wolfenbuettel, Germany, July 29, 2014 – QIAGEN and BGI Tech Solutions Co., Ltd. » Read More

QIAGEN integrates content from BIOBASE, including widely adopted HGMD, with its leading offering for biological data interpretation

New biomedical content resources strengthen QIAGEN’s industry-leading bioinformatics portfolio Expansion will offer clinical researchers the most comprehensive, high-quality and up-to-date literature source for gene variant and disease phenotype associations Expert-curated hereditary variants from HGMD are now available to customers using QIAGEN’s Ingenuity Variant Analysis – shows commitment to use synergies for rapid integration. HILDEN, Germany, » Read More

Murdoch Childrens Research Institute appoints BIOBASE for distribution of POSSUMweb dysmorphology database

Murdoch Childrens Research Institute, Australia’s largest child health research institute, today announced an agreement with BIOBASE, the leading provider of expert-curated biological databases, software and services for life science researchers. The agreement will see BIOBASE become the exclusive worldwide distributor of the Institute’s web-based dysmorphology database, POSSUMweb (Pictures Of Standard Syndromes and Undiagnosed Malformations). POSSUMweb » Read More

BIOBASE Launches PharmacoGenomic Mutation Database (PGMD™) – a Knowledge-base Containing Genetic Variants that Affect Drug Response

October 23, 2013

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.

Human Genetics, September 2013

HGMD®: An Independent Comparison vs. Other Variant Resources

Prompted by the explosion of information coming from massively parallel sequencing efforts, the challenges associated with analyzing such large data sets and the importance of databases which accurately catalog characterized variant-disease relationships to those analysis efforts, two recent publications provide an independent review of available variant resources. Peterson et al. and Johnston et al. (see » Read More