Variant analysis is becoming more important than ever in clinical settings — which means every interpretation has to be based on the strongest evidence possible. Our new white paper, “HGMD and ClinVar: Avoiding the Knowledge Blind Spot,” is based on the premise that a shortcoming of genetic testing occurs when “valuable information that goes undetected due to inadequate mining and interpretation mechanisms.” It’s getting harder and harder for variant analysts to keep up: the number of published hereditary, disease-associated germline mutations has doubled in the last 10 years.
Two of the most common repositories used to look up variants are the Human Gene Mutation Database (HGMD®) and ClinVar. The white paper compares these databases on several fronts:
An independent review in 2013 found that just 20 percent of variants listed in ClinVar had clinical significance. HGMD included nearly 10 times as many clinically significant variants at the same time, and has continued to grow rapidly.
HGMD and HGMD Professional are frequently updated with expert-curated information, while ClinVar relies on volunteer submitters whose information may or may not be supported by peer-reviewed literature.
HGMD is very simple to navigate, making it easier for users to mine and interpret its breadth of content. A search for information about cystic fibrosis and then quickly scanning each result for relevant mutations, for instance, would take nearly 300 hours on PubMed, but in HGMD the same result could be achieved in just five minutes.
HGMD Professional is licensed exclusively through QIAGEN. To learn more, check out the full white paper.
