This white paper discusses the significance of “knowledge blind spots” in modern genetic testing--valuable information that goes undetected due to inadequate mining and interpretation mechanisms.
To this end, several variant databases have been developed and cultivated, predominantly the Human Genome Mutation Database (HGMD) and ClinVar, both of which record diseasecausing or disease-associated (pathogenic) variation. However, while both databases are extensively used in genetic testing programs, they are not equal. This paper illustrates how HGMD exceeds ClinVar in terms of clinical breadth and clinical depth and is essential to provide better care with better knowledge.
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