Having been cited in more than 5,000 scientific publications, HGMD® is the gold standard industry-leading resource for comprehensive coverage of published human inherited disease mutations. Whether searching for an overview of known mutations associated with a particular disease, interpreting clinical test results, looking for the likely causal mutation in a list of variants, or seeking to integrate mutation content into your custom NGS pipeline or data repository – HGMD is a flexible resource that can be adapted to a broad range of applications.
Need quick access to the complete collection of more than 197,000 mutation reports? The HGMD Online option enables quick look up of individual mutations as well as advanced search applications for identifying published mutations known to be associated with a particular gene or disease, to disrupt a splice donor or acceptor site, to result in a specific amino acid change and much more! Each mutation is linked to the original source where it was described for further review.View the Database Statistics
With HGMD pre-integrated into QIAGEN Clinical Insight (QCI™) Interpret for Hereditary Cancer you no longer need to use multiple data sources or tools to score NGS variants. QCI Interpret’s underlying QIAGEN Knowledge Base incorporates HGMD’s set of comprehensive germline mutations and adds important contextual details including observed zygosity, presence of co-occurring mutations and ethnicity as well as extensive bibliographies of published case studies to enable accurate scoring of variants in a clinical context.
HGMD professional provides the most comprehensive database of human disease associations and is an invaluable resource in both clinical and research-grade genetics and genomics activities.
Dr. Ali Torkamani, Chief Science Officer at Cypher Genomics
Need an easy to use tool for high-throughput mapping and interpretation of NGS variants? The unique combination of Ingenuity Variant Analysis with HGMD inside helps you rapidly identify and prioritize variants in your NGS data by drilling down to a small, targeted subset of compelling variants based both upon published biological evidence and your own knowledge of disease biology.
Already have an in-house NGS variant analysis pipeline? Or want to mine the collection of data for insight into the nature of human mutations? The HGMD data download option provides full flexibility to integrate HGMD mutation data into your own and select 3rd party programs and tools.View the sample data
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