Next-generation sequencing-based diagnostics have identified the genetic cause of numerous disorders. However, researchers must efficiently filter and classify identified variants when performing genetic testing. The high discovery rate in the field causes scientists to spend hours looking through databases and reviewing recent publications to determine variant pathogenicity. To ensure that variants within its database have up-to-date classifications, the Human Gene Mutation Database (HGMD®) combines automated and manual search procedures for continuous expert data curation.
Download this application note from Qiagen to discover how a manually-curated resource helps researchers determine a variant’s clinical significance using up-to-date information.