The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics

@inproceedings{Stenson2009TheHG,
  title={The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics},
  author={Peter D. Stenson and Edward V. Ball and Katy Howells and Andrew D. Phillips and Matthew E. Mort and David N. Cooper},
  booktitle={Human Genomics},
  year={2009}
}
Reading the recent Editorial in the Journal by Richard Cotton, which publicised the proposed new Human Variome Project, one could be forgiven for thinking that no central repository for inherited human gene mutations of pathological significance currently exists. In practice, however, the Human Gene Mutation Database (HGMD; http://www.hgmd.org) already constitutes a comprehensive collection of single base-pair substitutions in coding (missense and nonsense), regulatory and splicing-relevant… CONTINUE READING
Highly Influential
This paper has highly influenced 10 other papers. REVIEW HIGHLY INFLUENTIAL CITATIONS
68 Citations
8 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 68 extracted citations

Similar Papers

Loading similar papers…