The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

@inproceedings{Stenson2013TheHG,
  title={The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine},
  author={Peter D. Stenson and Matthew E. Mort and Edward V. Ball and Katy Shaw and Andrew D. Phillips and David N. Cooper},
  booktitle={Human Genetics},
  year={2013}
}
The Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease. By June 2013, the database contained over 141,000 different lesions detected in over 5,700 different genes, with new mutation entries currently accumulating at a rate exceeding 10,000 per annum. HGMD was originally established in 1996 for the scientific study of mutational mechanisms in human genes. However, it has since… CONTINUE READING
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