HGMD

Better Care with Better Knowledge

1,194 views
July 27, 2018
Are you sure you have all the knowledge to provide the best care?

In modern hereditary disease testing, keeping pace with new discoveries is a serious bottleneck. Valuable information can go undetected due to inadequate mining and interpretation mechanisms. These are called "knowledge blind spots" and can have significant clinical consequences.

QIAGEN is the world leader in aggregating genetic disease knowledge resources. For the past 20 years, we have partnered with clinical testing labs throughout the world to manually curate genetic evidence across all human genes (23,000). The QIAGEN Knowledge Base has the collective experience of interpreting over 750,000 human samples. With the QIAGEN Knowledge Base, you have the world's most comprehensive genetic knowledgebase at your fingertips, giving you the clinical evidence you need to quickly interpret NGS data and reduce the number of variants of unknown significance.

Presented by:
Rupert Yip, PhD - Associate Director, Genetic Disease Informatics at QIAGEN

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