HGMD Professional

HGMD^® Professional is a unique resource providing comprehensive data on human inherited disease mutations to genetics and genomic research. It allows you to: 

• Prioritize mutations from whole exome or whole genome sequencing.
• Uncover the impact of your human variants on disease risk, gene regulation, and protein function.
• Remove biologically irrelevant mutations and reduce the amount of mutations you have to investigate.
• Identify novel mutations not previously reported in the literature.
• Understand gene regulation changes in your variants by mapping novel mutations to known or predicted regulatory sites.
• Find disease genes, drug targets, and pathways linked to your variations.