The Human Gene Mutation Database (HGMD) provides clinicians with up-to-date information about disease-associated variants. HGMD offers high-quality, manually curated data that are classified and associated with the disease of interest. HGMD can also help in the optimization of mutational screening strategies as it provides valuable data for clinical interpretive use in exome screening studies.
This application note from Qiagen summarizes using HGMD Professional, a manually curated resource for finding disease-causing mutations, to improve diagnosis of complex neurological disorders including Alzheimer’s and Parkinson’s.
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