The Human Gene Mutation Database: 2008 update

The Human Gene Mutation Database (HGMD®) is a comprehensive core collection of germline mutations in nuclear genes that underlie or are associated with human inherited disease. Here, we summarize the history of the database and its current resources. By December 2008, the database contained over 85,000 different lesions detected in 3,253 different genes, with new entries currently accumulating at a rate exceeding 9,000 per annum. Although originally established for the scientific study of mutational mechanisms in human genes, HGMD has since acquired a much broader utility for researchers, physicians, clinicians and genetic counselors as well as for companies specializing in biopharmaceuticals, bioinformatics and personalized genomics. HGMD was first made publicly available in April 1996, and a collaboration was initiated in 2006 between HGMD and BIOBASE GmbH. This cooperative agreement covers the exclusive worldwide marketing of the most up-to-date (subscription) version of HGMD, HGMD Professional, to academic, clinical and commercial users.

[1]  P. Y. Chou,et al.  Prediction of protein conformation. , 1974, Biochemistry.

[2]  R. Grantham.  Amino Acid Difference Formula to Help Explain Protein Evolution , 1974, Science.

[3]  K. R. Woods,et al.  Prediction of protein antigenic determinants from amino acid sequences. , 1981, Proceedings of the National Academy of Sciences of the United States of America.

[4]  R. Doolittle,et al.  A simple method for displaying the hydropathic character of a protein. , 1982, Journal of molecular biology.

[5]  M. Gerretsen,et al.  A phase III randomised trial of cisplatinum, methotrextate, cisplatinum + methotrexate and cisplatinum + 5-FU in end stage squamous carcinoma of the head and neck. Liverpool Head and Neck Oncology Group. , 1990, British Journal of Cancer.

[6]  D. Cooper,et al.  Human Gene Mutation Database , 1996, Human Genetics.

[7]  Michael Krawczak,et al.  The human gene mutation database , 1998, Nucleic Acids Res..

[8]  J. Frézal,et al.  Genatlas database, genes and development defects. , 1998, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

[9]  A J Cuticchia,et al.  Future vision of the GDB Human Genome Database , 2000, Human mutation.

[10]  Elizabeth M. Smigielski,et al.  dbSNP: the NCBI database of genetic variation , 2001, Nucleic Acids Res..

[11]  R. Nussbaum,et al.  Proposed guidelines for papers describing DNA polymorphism-disease associations , 2002, Human Genetics.

[12]  Jo McEntyre,et al.  The NCBI Handbook , 2002 .

[13]  Patricia K. Baskin,et al.  GeneTests‐GeneClinics: Genetic testing information for a growing audience , 2002, Human mutation.

[14]  Tsviya Olender,et al.  GeneCardsTM 2002: towards a complete, object-oriented, human gene compendium , 2002, Bioinform..

[15]  L. Wagner,et al.  21. UniGene: A Unified View of the Transcriptome , 2003 .

[16]  N. Campbell.  Genetic association database , 2004, Nature Reviews Genetics.

[17]  Lisa M. D'Souza,et al.  Genome sequence of the Brown Norway rat yields insights into mammalian evolution , 2004, Nature.

[18]  Guillaume Vogt,et al.  Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations , 2005, Nature Genetics.

[19]  K. S. Deshpande,et al.  Human protein reference database—2006 update , 2005, Nucleic Acids Res..

[20]  M. Stratton,et al.  COSMIC 2005 , 2006, British Journal of Cancer.

[21]  Sudhir Kumar,et al.  Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genome , 2006, BMC Genomics.

[22]  V. McKusick.  Mendelian Inheritance in Man and Its Online Version, OMIM , 2007, The American Journal of Human Genetics.

[23]  Shamil R Sunyaev,et al.  Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. , 2007, American journal of human genetics.

[24]  David N. Messina,et al.  Evolutionary and Biomedical Insights from the Rhesus Macaque Genome , 2007, Science.

[25]  Timothy B. Stockwell,et al.  The Diploid Genome Sequence of an Individual Human , 2007, PLoS biology.

[26]  Pierre Baldi,et al.  An enhanced MITOMAP with a global mtDNA mutational phylogeny , 2006, Nucleic Acids Res..

[27]  Michel Schneider,et al.  UniProtKB/Swiss-Prot. , 2007, Methods in molecular biology.

[28]  Tatiana A. Tatusova,et al.  Entrez Gene: gene-centered information at NCBI , 2004, Nucleic Acids Res..

[29]  Jin-Sung Lee,et al.  PADB : Published Association Database , 2007, BMC Bioinformatics.

[30]  J. Lupski,et al.  The complete genome of an individual by massively parallel DNA sequencing , 2008, Nature.

[31]  Sue Povey,et al.  The HGNC Database in 2008: a resource for the human genome , 2007, Nucleic Acids Res..

[32]  Feng Liu,et al.  The pharmacogenetics and pharmacogenomics knowledge base: accentuating the knowledge , 2007, Nucleic Acids Res..