HGMD® Content from BIOBASE Is Now Integrated with Ingenuity® Variant Analysis

QIAGEN's Ingenuity Variant Analysis integrated with BIOBASE's HGMD

We are very pleased to announce the integration of BIOBASE’s expertly-curated content into our industry-leading portfolio of bioinformatics solutions. This exciting expansion will offer clinical researchers the most comprehensive, high-quality and up-to-date literature source for gene variant and disease phenotype associations. And this is just the beginning!

Sequencing data growth continues to accelerate in research and discovery. Sequencing and downstream data analysis are beginning to demonstrate their clinical utility. As such, there is a pressing need for a more comprehensive, high-quality, structured resource that enables researchers to quickly and reliably assess the most up-to-date information about variants and associated phenotypes from sequencing data. As part of our commitment to build the world’s most comprehensive resources for sequencing data analysis and interpretation, we are continually looking for ways we can further enhance our web-based analysis solutions for researchers and clinicians.

If you are unfamiliar with BIOBASE, they have spent nearly 20 years developing a number of high-quality databases that contain unique, manually-curated content from peer-reviewed literature which can be used by scientists and clinical labs to identify relationships critical to drug and biomarker discovery as well as biomedical research. More than 600 customers worldwide, including pharmaceutical, academic and research institutions, use BIOBASE’s products which include but are not limited to:

  • HGMD® Human Gene Mutation Database – which provides comprehensive data on human inherited disease mutations. Widely used in human genetics research, diagnostics and personal genomics, HGMD enables quick access to single mutation queries and advanced search applications.
  • PGMD™ PharmacoGenomic Mutation Database – which identifies all published gene variants that have been shown to affect drug response in patients, with multiple delivery models for accessing this data, including an intuitive exploratory interface and a data download for in-house analysis systems.

HGMD is now integrated with QIAGEN’s Ingenuity Variant Analysis. We are also working on integrating BIOBASE’s solutions with Ingenuity Clinical, QIAGEN’s forthcoming clinical NGS decision-support solution. Ingenuity Clinical is a new web-based solution to deliver faster, easier-to-use and high-confidence clinical interpretation and reporting of insights from sequencing-based tests.

If you are an existing Variant Analysis customer, simply log-into Variant Analysis, re-run your analysis and access the HGMD links with two weeks FREE ACCESS to HGMD.

If you are not already a user of Variant Analysis, you can sign up for a free trial version , which will allow you to explore. With the addition of HGMD, Ingenuity Variant Analysis offers the most comprehensive resource available for understanding your sequencing data.

HGMD With Variant Analysis

Figure 1: Preview of the integration of HGMD data within Variant Analysis

If you are an existing HGMD customer, QIAGEN is providing you with a FREE trio of samples for analysis within Variant Analysis using a valid HGMD license key.

If you’d like to learn more, here is a quick tutorial video of Ingenuity Variant Analysis with HGMD data.

Other BIOBASE products such as such as PROTEOME and TRANSFAC will continue to be available at BIOBASE-international.com/products.