What question did this study set out to answer?

To provide a comprehensive, manually curated repository of germline mutations in human nuclear genes underlying inherited diseases to support clinical genetics and genomic sequencing.

March 27, 2017Human GeneticsOpen Access

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

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To provide a comprehensive, manually curated repository of germline mutations in human nuclear genes underlying inherited diseases to support clinical genetics and genomic sequencing.
Manually curated published germline mutations associated with human inherited disease from over 2,600 scientific journals.
Provided data access via a freely accessible public portal for academic users and an expanded commercial version for clinical and diagnostic annotation.
Cataloged over 203,000 distinct gene lesions identified across more than 8,000 genes as of March 2017.
Expanded at an annual intake rate exceeding 17,000 new mutation entries to facilitate next-generation sequencing variant interpretation.

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Implication

Database report reveals over 203,000 inherited gene lesions curated across 8000 human genes, highlighting HGMD as a critical resource for clinical genomic interpretation.

Cite This Study

Stenson et al. (2017) studied this question.

synapsesocial.com/papers/69d8d188f39dfae3cad1808c https://doi.org/10.1007/s00439-017-1779-6

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Implication

Database report reveals over 203,000 inherited gene lesions curated across 8000 human genes, highlighting HGMD as a critical resource for clinical genomic interpretation.

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

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Discussion

Implication

Cite This Study

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Key Points

Discussion

Implication

Cite This Study

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