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

New Research Published Compared the Human Genomes Using HGMD

BBC News announced today, that the new research, published in the recent article on Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Re-sequencing in The American Society of Human Genome publication, compared the genomes of 179 participants, with a database of human mutations developed at Cardiff University. This is » Read More

ANNOVAR Appoints BIOBASE for Commercial Distribution


Cypher Genomics Selects BIOBASE Genome Trax Knowledgebase for Variant Analysis


Luxembourg Centre for Systems Biomedicine Appoints BIOBASE Genome Trax™ to Identify Human Genome Variations

Identifying the Causes of Differential Gene Expression

Supplementing Downstream Analysis Approach with Upstream Analysis Can Bring Additional Value

HGMD® Contributes to Landmark Genome Analysis in Nature and Science

March 8, 2012 — Nature published a paper on Insights into hominid evolution from the gorilla genome sequence. This publication acknowledges the use of Human Gene Mutation Database (HGMD) Professional.  Click here to read a full article. In addition, Science Magazine released a paper on A systematic survey of loss-of-function variants in human protein-coding genes.  HGMD was used in the identification » Read More

CLC bio and BIOBASE integrates genome informatics framework with Genome Trax database

Providence, RI, USA — September 27, 2011 — At the “Evolution of Next-Gen Sequencing” (NGx) conference in Providence, Rhode Island, CLC bio and BIOBASE launched a new plugin for CLC bio’s new framework for visualizing, combining and analyzing genome data, Genomics Gateway, which integrates the human curated biological databases contained in BIOBASE’s Genome Trax™, including » Read More