Overview
I am one of the bio-curators working on the Human Gene Mutation Database (HGMD),® a comprehensive collection of germline mutations in nuclear genes underlying or associated with human inherited disease. HGMD is freely available to users from academic/non-profit organisations at the public website (after registration at http://www.hgmd.cf.ac.uk/docs/register.html). Mutation data are made available on the public site three and a half years after initial inclusion in the database. An up-to-date version of HGMD (HGMD Professional) is available via license from our commercial partners, QIAGEN Bioinformatics. As well as the extra mutations, HGMD Professional includes various additional data and programs including genomic coordinates/HGVS nomenclature/VCF data for the majority of lesions, secondary references for entries (details of functional studies, case reports, etc.), and a suite of search and analysis tools. More information on HGMD can be found in Stenson et al. (2017) The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet 136:665-677. doi: 10.1007/s00439-017-1779-6 [PubMed]
Publication
2020
- Stenson, P. D. et al. 2020. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Human Genetics 139, pp. 1197-1207. (10.1007/s00439-020-02199-3)
2017
- Stenson, P. D. et al. 2017. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Human Genetics 136(6), pp. 665-677. (10.1007/s00439-017-1779-6)
2014
- Stenson, P., Mort, M., Ball, E., Shaw, K., Phillips, A. and Cooper, D. 2014. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Human Genetics 133(1), pp. 1-9. (10.1007/s00439-013-1358-4)
2012
- Xue, Y. et al. 2012. Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. American Journal of Human Genetics 91(6), pp. 1022-1032. (10.1016/j.ajhg.2012.10.015)
- Stenson, P. D., Ball, E. V., Mort, M. E., Phillips, A. D., Shaw, K. and Cooper, D. N. 2012. The human gene mutation database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution. Current Protocols in Bioinformatics 39, pp. 1.13.1-1.13.20. (10.1002/0471250953.bi0113s39)
- Scally, A. et al. 2012. Insights into hominid evolution from the gorilla genome sequence. Nature 483(7388), pp. 169-175. (10.1038/nature10842)
- Casola, C., Zekonyte, U., Phillips, A. D., Cooper, D. N. and Hahn, M. W. 2012. Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease. Genome Research 22(3), pp. 429-435. (10.1101/gr.127738.111)
2011
- Ivanov, D., Hamby, S. E., Stenson, P. D., Phillips, A. D., Kehrer-Sawatzki, H., Cooper, D. N. and Chuzhanova, N. 2011. Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes. Human Mutation 32(6), pp. 620-632. (10.1002/humu.21483)
2010
- Durbin, R. M. et al. 2010. A map of human genome variation from population-scale sequencing. Nature 467(7319), pp. 1061-1073. (10.1038/nature09534)
- Cooper, D. N. et al. 2010. Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Human Mutation 31(6), pp. 631-655. (10.1002/humu.21260)
2009
- Stenson, P. D., Ball, E. V., Howells, K., Phillips, A. D., Mort, M. E. and Cooper, D. N. 2009. The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics [Editorial]. Human Genomics 4(2), pp. 69-72.
- Stenson, P. D., Mort, M., Ball, E., Howells, K., Phillips, A. D., Thomas, N. and Cooper, D. N. 2009. The Human Gene Mutation Database: 2008 update. Genome Medicine 1(1), article number: 13. (10.1186/gm13)
2007
- Stenson, P. D., Ball, E., Howells, K., Phillips, A., Mort, M. E. and Cooper, D. N. 2007. Human Gene Mutation Database: towards a comprehensive central mutation database [Letter]. Journal of Medical Genetics 45(2), pp. 124-126. (10.1136/jmg.2007.055210)
2003
- Stenson, P. D. et al. 2003. Human Gene Mutation Database (HGMD): 2003 update. Human Mutation 21(6), pp. 577-581. (10.1002/humu.10212)
Erthyglau
- Stenson, P. D. et al. 2020. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Human Genetics 139, pp. 1197-1207. (10.1007/s00439-020-02199-3)
- Stenson, P. D. et al. 2017. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Human Genetics 136(6), pp. 665-677. (10.1007/s00439-017-1779-6)
- Stenson, P., Mort, M., Ball, E., Shaw, K., Phillips, A. and Cooper, D. 2014. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Human Genetics 133(1), pp. 1-9. (10.1007/s00439-013-1358-4)
- Xue, Y. et al. 2012. Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing. American Journal of Human Genetics 91(6), pp. 1022-1032. (10.1016/j.ajhg.2012.10.015)
- Stenson, P. D., Ball, E. V., Mort, M. E., Phillips, A. D., Shaw, K. and Cooper, D. N. 2012. The human gene mutation database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution. Current Protocols in Bioinformatics 39, pp. 1.13.1-1.13.20. (10.1002/0471250953.bi0113s39)
- Scally, A. et al. 2012. Insights into hominid evolution from the gorilla genome sequence. Nature 483(7388), pp. 169-175. (10.1038/nature10842)
- Casola, C., Zekonyte, U., Phillips, A. D., Cooper, D. N. and Hahn, M. W. 2012. Interlocus gene conversion events introduce deleterious mutations into at least 1% of human genes associated with inherited disease. Genome Research 22(3), pp. 429-435. (10.1101/gr.127738.111)
- Ivanov, D., Hamby, S. E., Stenson, P. D., Phillips, A. D., Kehrer-Sawatzki, H., Cooper, D. N. and Chuzhanova, N. 2011. Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes. Human Mutation 32(6), pp. 620-632. (10.1002/humu.21483)
- Durbin, R. M. et al. 2010. A map of human genome variation from population-scale sequencing. Nature 467(7319), pp. 1061-1073. (10.1038/nature09534)
- Cooper, D. N. et al. 2010. Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Human Mutation 31(6), pp. 631-655. (10.1002/humu.21260)
- Stenson, P. D., Ball, E. V., Howells, K., Phillips, A. D., Mort, M. E. and Cooper, D. N. 2009. The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics [Editorial]. Human Genomics 4(2), pp. 69-72.
- Stenson, P. D., Mort, M., Ball, E., Howells, K., Phillips, A. D., Thomas, N. and Cooper, D. N. 2009. The Human Gene Mutation Database: 2008 update. Genome Medicine 1(1), article number: 13. (10.1186/gm13)
- Stenson, P. D., Ball, E., Howells, K., Phillips, A., Mort, M. E. and Cooper, D. N. 2007. Human Gene Mutation Database: towards a comprehensive central mutation database [Letter]. Journal of Medical Genetics 45(2), pp. 124-126. (10.1136/jmg.2007.055210)
- Stenson, P. D. et al. 2003. Human Gene Mutation Database (HGMD): 2003 update. Human Mutation 21(6), pp. 577-581. (10.1002/humu.10212)