The human gene mutation database: 2008 update

Genome Medicine

Volumn 1, Issue 1, 2009, Pages

  Stenson, Peter D ^a   Mort, Matthew ^a   Ball, Edward V ^a   Howells, Katy ^a   Phillips, Andrew D ^a   Cooper, David N ^a   Thomas, Nick S T ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BIOINFORMATICS; DATA ANALYSIS SOFTWARE; DNA SEQUENCE; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE INSERTION; GENETIC DATABASE; GENETIC VARIABILITY; LETTER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TREND STUDY;

EID: 77953446523     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm13     Document Type: Letter

References (34)

1. The Human Gene Mutation Database [http://www.hgmd.org]
2. Forbes S, Clements J, Dawson E, Bamford S, Webb T, Dogan A, Flanagan A, Teague J, Wooster R, Futreal PA, Stratton MR: COSMIC 2005. Br J Cancer 2006, 94:318-322.
3. Ruiz-Pesini E, Lott MT, Procaccio V, Poole JC, Brandon MC, Mishmar D, Yi C, Kreuziger J, Baldi P, Wallace DC: An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res 2007, 35:D823-D828.
4. Cuticchia AJ: Future vision of the GDB human genome database. Hum Mutat 2000, 15:62-67.
5. McKusick VA: Mendelian Inheritance in Man and its online version, OMIM. Am J Hum Genet 2007, 80:588-604.
6. Bruford EA, Lush MJ, Wright MW, Sneddon TP, Povey S, Birney E: The HGNC Database in 2008: a resource for the human genome. Nucleic Acids Res 2008, 36:D445-D448.
7. Maglott D, Ostell J, Pruitt KD, Tatusova T: Entrez Gene: gene-centered information at NCBI. Nucleic Acids Res 2007, 35:D26-D31.
8. Safran M, Solomon I, Shmueli O, Lapidot M, Shen-Orr S, Adato A, Ben-Dor U, Esterman N, Rosen N, Peter I, Olender T, Chalifa-Caspi V, Lancet D: GeneCards 2002: towards a complete, object-oriented, human gene compendium. Bioinformatics 2002, 18:1542-1543.
9. Frézal J: Genatlas database, genes and development defects. C R Acad Sci III 1998, 321:805-817.
10. Pagon RA, Tarczy-Hornoch P, Baskin PK, Edwards JE, Covington ML, Espeseth M, Beahler C, Bird TD, Popovich B, Nesbitt C, Dolan C, Marymee K, Hanson NB, Neufeld-Kaiser W, Grohs GM, Kicklighter T, Abair C, Malmin A, Barclay M, Palepu RD: GeneTests-GeneClinics: Genetic testing information for a growing audience. Hum Mutat 2002, 19:501-509.
11. Pontius JU, Wagner L, Schuler GD: UniGene: a unified view of the transcriptome. In The NCBI Handbook. Bethesda: National Center for Biotechnology Information; 2003.
12. Boutet E, Lieberherr D, Tognolli M, Schneider M, Bairoch A: UniProtKB/ Swiss-Prot: the manually annotated section of the UniProt KnowledgeBase. Methods Mol Biol 2007, 406:89-112.
13. Mishra GR, Suresh M, Kumaran K, Kannabiran N, Suresh S, Bala P, Shivakumar K, Anuradha N, Reddy R, Raghavan TM, Menon S, Hanumanthu G, Gupta M, Upendran S, Gupta S, Mahesh M, Jacob B, Mathew P, Chatterjee P, Arun KS, Sharma S, Chandrika KN, Deshpande N, Palvankar K, Raghavnath R, Krishnakanth R, Karathia H, Rekha B, Nayak R, Vishnupriya G, et al.: Human protein reference database-2006 update. Nucleic Acids Res 2006, 34:D411-D414.
14. Hernandez-Boussard T, Whirl-Carrillo M, Hebert JM, Gong L, Owen R, Gong M, Gor W, Liu F, Truong C, Whaley R, Woon M, Zhou T, Altman RB, Klein TE: The pharmacogenetics and pharmacogenomics knowledge base: accentuating the knowledge. Nucleic Acids Res 2008, 36:D913-D918.
15. Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K: dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001, 29:308-311.
16. Cooper DN, Nussbaum RL, Krawczak M: Proposed guidelines for papers describing DNA polymorphism-disease associations. Hum Genet 2002, 110:207-208.
17. Becker KG, Barnes KC, Bright TJ, Wang SA: The genetic association database. Nat Genet 2004, 36:431-432.
18. Rhee H, Lee JS: PADB: Published association database. BMC Bioinformatics 2007, 8:348.
19. HuGE navigator [http://www.hugenavigator.net/]
20. BIOBASE website [http://www.biobase-international.com]
21. Rhesus Macaque Genome Sequencing and Analysis Consortium: Evolutionary and biomedical insights from the rhesus macaque genome. Science 2007, 316:222-234.
22. Rat Genome Sequencing Consortium: Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature 2004, 428:493-521.
23. Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, BauerTR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, et al.: Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet 2005, 37:692-700.
24. Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen YJ, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song XZ, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM: The complete genome of an individual by massively parallel DNA sequencing. Nature 2008, 452:872-876.
25. Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman J, Rogers YH, Frazier ME, Scherer SW, Strausberg RL, Venter JC: The diploid genome sequence of an individual human. PLoS Biol 2007, 5:e254.
26. Kryukov GV, Pennacchio LA, Sunyaev SR: Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet 2007, 80:727-739.
27. Subramanian S, Kumar S: Evolutionary anatomies of positions and types of disease-associated and neutral amino acid mutations in the human genome. BMC Genomics 2006, 7:306.
28. HGMD Professional [http://www.biobase-international.com/pages/ index.php?id=hgmddatabase]
29. The benefits of HGMD Professional [http://www.biobase-international. com/pages/index.php?id=411]
30. Kyte J, Doolittle RF: A simple method for displaying the hydropathic character of a protein. J Mol Biol 1982, 157:105-132.
31. Hopp TP, Woods KR: Prediction of protein antigenic determinants from amino acid sequences. Proc Natl Acad Sci USA 1981, 78:3824-3828.
32. Chou PY, Fasman GD: Prediction of protein conformation. Biochemistry 1974, 13:222-245.
33. Grantham R: Amino acid difference formula to help explain protein evolution. Science 1974, 185:862-864.
34. The Entrez Protein Database [http://www.ncbi.nlm.nih.gov/sites/ entrez?db=Protein]