[1] Collins FS, Patrinos A, Jordan E, Chakravarti A, Geste-land R, Walters L, the members of the DOE and NIH planning groups. New goals for the U.S. Human Genome Project: 1998-2003. Science, 1998, 282(5389): 682-689.
[2] Porter CJ, Talbot-Jr CC, Cuticchia AJ. Central mutation da-tabases—a review. Human Mutation, 2000, 15(1): 36-44.
[3] Claustres M, Horaitis O, Vanevski M, Cotton RGH. Time for a unified system of mutation description and reporting: a review of locus specific mutation databases. Genome Res, 2002, 12(5): 680-688.
[4] den Dunnen JT, Sijmons RH, Andersen PS, Vihinen M, Beckmann JS, Rossetti S, Talbot-Jr CC, Hardison RC, Povey S, Cotton RGH. Sharing data between LSDBs and central repositories. Human Mutation, 2009, 30(4): 493-495.
[5] Human Genome Variation Society. LSDB Core Data In-tegration Project. Human Genome Variation Society Newsletter, Barcelona, Spain, 2008, 2-4.
[6] Horaitis O, Cotton RGH. The challenge of documenting mutation across the genome: the human genome variation society approach. Human Mutation, 2004, 23(5): 447-452.
[7] Cotton RGH, Auerbach AD, Axton M, Barash CI, Berkovic SF, Brookes AJ, Burn J, Cutting G, den Dunnen JT, Flicek P, Freimer N, Greenblatt MS, Howard HJ, Katz M, Macrae FA, Maglott D, Möslein G, Povey S, Ramesar RS, Richards CS, Seminara D, Smith TD, Sobrido MJ, Solbakk JH, Tanzi RE, Tavtigian SV, Taylor GR, Utsuno-miya J, Watson M. The Human Variome Project. Science, 2008, 322(5903): 861-862.
[8] Krawczak M, Cooper DN. The Human Gene Mutation Database. Trends Genet, 1997, 13(3): 121-122.
[9] Cooper DN, Ball EV, Krawczak M. The Human Gene Muta-tion Gatabase. Nucleic Acids Res, 1998, 26(1): 285-287.
[10] Krawczak M, Cooper DN. Human Gene Mutation Data-base. A biomedical information and research resource. Human Mutation, 2000, 15(1): 45-51.
[11] Lehväslaiho H, Stupka E, Ashburner M. Sequence varia-tion database project at the European Bioinformatics In-stitute. Human Mutation, 2000, 15(1): 52-56.
[12] Hamosh A, Scott AF, Amberger J, Valle D, McKusick VA. Online Mendelian Inheritance in Man (OMIM). Human Mutation, 2000, 15(1): 57-61.
[13] Cuticchia AJ. Future vision of the GDB human genome database. Human Mutation, 2000, 15(1): 62-67.
[14] Sherry ST, Ward M, Sirotkin K. Use of molecular varia-tion in the NCBI dbSNP database. Human Mutation, 2000, 15(1): 68-75.
[15] Brookes AJ, Lehväslaiho H, Siegfried M, Boehm JG, Yuan YP, Sarkar CM, Bork P, Ortigao F. HGBASE: a database of SNPs and other variations in and around human genes. Nucleic Acids Res, 2000, 28(1): 356-360.
[16] Cotton RGH. Progress of the HUGO mutation database initiative: a brief introduction to the Human Mutation MDI special issue. Human Mutation, 2000, 15(1): 4-6.
[17] Cotton RGH, Kazazian-Jr HH. Human mutation: the offi-cial journal of the Human Genome Variation Society (HGVS). Human Mutation, 2002, 19(1): 1.
[18] Cotton RGH, participants of the 2006 Human Variome Project meeting. Recommendations of the 2006 Human Variome Project meeting. Nature Genetics, 39(4): 433-436.
[19] Beaudet AL, the Ad Hoc Committee on Mutation Nomen-clature. Update on nomenclature for human gene muta-tions .Human Mutation, 1996, 8(3):197-202.
[20] Beutler E, McKusick VA, Motulsky A, Scriver CR, Hut-chinson F. Mutation nomenclature: nicknames, systematic names and unique identifiers. Human Mutation, 1996, 8(3): 203-206.
[21] Antonarakis SE, the Nomenclature Working Group. Rec-ommendations for a nomenclature system for human gene mutations. Human Mutation, 1998, 11(1): 1-3.
[22] den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Human Mutation, 2000, 15(1): 7-12.
[23] den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations:a discussion. Human Mutation, 2002, 20(5): 403.
[24] Nebert DW. Proposal for an allele nomenclature system based on the evolutionary divergence of haplotypes. Human Mutation, 2002, 20(6): 463-472.
[25] Scriver CR, Nowacki PM, Lehväslaiho H. Guidelines and recommendations for content, structure and deployment of mutation databases. Human Mutation, 1999, 13(5): 344-350.
[26] Scriver CR, Nowacki PM, Lehväslaiho H, the Working Group. Guidelines and recommendations for content, structure, and deployment of mutation databases. II. Jour-ney in progress. Human Mutation, 2000, 15(1): 13-15.
[27] Cotton RGH, Scriver CR. Proof of “disease caus-ing”mutation. Human Mutation, 1998, 12(1): 1-3.
[28] Cotton RGH, Horaitis O. Quality control in the discovery, reporting, and recording of genomic variation. Human Mutation, 2000, 15(1): 16-21.
[29] Rogozin IB, Kondrashov FA, Glazko GV. Use of mutation spectra analysis software. Human Mutation, 2001, 17(2): 83-102.
[30] Cox DG, Boillot C, Canzian F. Data mining: efficiency of using sequence databases for polymorphism discovery. Human Mutation, 2001, 17(2): 141-150.
[31] Collins A, Ennis S, Taillon-Miller P, Kwok PY, Morton NE. Allelic association with SNPs: metrics, populations, and the linkage disequilibrium map. Human Mutation, 2001, 17(4): 255-262
. [32] Wang Z, Moult J. SNPs, protein structure, and disease. Human Mutation, 2001, 17(4): 263-270.
[33] Gut IG. Automation in genotyping of single nucleotide polymorphisms. Human Mutation, 2001, 17(6): 475-492
. [34] Martin ACR, Facchiano AM, Cuff AL, Hernan-dez-Boussard T, Olivier M, Hainaut P, Thornton JM. Inte-grating mutation data and structural analysis of the TP53 tumor-suppressor protein. Human Mutation, 2002, 19(2): 149-164
. [35] Aerts J, Wetzels Y, Cohen N, Aerssens J. Data mining of public SNP databases for the selection of intragenic SNPs. Human Mutation, 2002, 20(3): 162-173.
[36] Lachmund P, Nebel IT, Führer D, Paschke R. The pedigree tool: web-based visualization of a family tree. Human Mutation, 2004, 23(2): 103-105
. [37] Soussi T, Kato S, Levy PP, Ishioka C. Reassessment of the TP53 mutation database in human disease by data mining with a library of TP53 missense mutations. Human Mutation, 2005, 25(1): 6-17.
[38] Freimuth RR, Stormo GD, McLeod HL. PolyMAPr: pro-grams for polymorphism database mining, annotation, and functional analysis. Human Mutation, 2005, 25(2): 110-117.
[39] Nalla VK, Rogan PK. Automated splicing mutation analy-sis by information theory. Human Mutation, 2005, 25(4): 334-342.
[40] Gao S, Zhang N, Duan GY, Yang Z, Ruan JS, Zhang T. Prediction of function changes associated with sin-gle-point protein mutations using support vector machines (SVMs). Human Mutation, 2009, 30(8): 1161-1166.
[41] Greenblatt MS. Mutation clusters offer insight into pre-dicting pathogenicity. Human Mutation, 2010, 31(3): v.
[42] Gefen A, Cohen R, Birk OS. Syndrome to gene (S2G): in-silico identification of candidate genes for human dis-eases. Human Mutation, 2010, 31(3): 229-236.
[43] Brown AF, McKie MA. MuStaRTM and other software for locus-specific mutation databases. Human Mutation, 2000, 15(1): 76-85.
[44] Béroud C, Collod-Béroud G, Boileau C, Soussi T, Junien C. UMD (universal mutation database): a generic software to build and analyse locus-specific databases. Human Mutation, 2000, 15(1): 86-94.
[45] Fredman D, Jobs M, Strömqvist L, Brookes AJ. DFold: PCR design that minimizes secondary structure and opti-mizes downstream genotyping applications. Human Mutation, 2004, 24(1): 1-8
. [46] Manaster C, Zheng WY, Teuber M, Wächter S, Döring F, Schreiber S, Hampe J. InSNP: A tool for automated detec-tion and visualization of SNPs and InDels. Human Mutation, 2005, 26(1): 11-19.
[47] Fokkema IFAC, den Dunnen JT, Taschner PEM. LOVD: Easy creation of a locus-specific sequence variation data-base using an “LSDB-in-a-box” approach. Human Mutation, 2005, 26(2): 63-68.
[48] Béroud C, Hamroun D, Collod-Béroud G, Boileau C, Soussi T, Claustres M. UMD (Universal Mutation Database): 2005 Update. Human Mutation, 2005, 26(3): 184-191.
[49] Smith TD, Cotton RG. VariVis: a visualization toolkit for variation databases. BMC Bioinformatics, 2008, 9: 206.
[50] Brandon MC, Ruiz-Pesini E, Mishmar D, Procaccio V, Lott MT, Nguyen KC, Spolim S, Patil U, Baldi P, Wallace DC. MITOMASTER: a bioinformatics tool for the analy-sis of mitochondrial DNA sequences. Human Mutation, 2009, 30(1): 1-6.
[51] Maurer S. Coping with change: Intellectual property rights new legislation, and the Human Mutations Database Ini-tiative. Human Mutation, 2000, 15(1): 22-29.
[52] Knoppers BM, Laberge CM. Ethical guideposts for allelic variation databases. Human Mutation, 2000, 15(1): 30-35
. [53] Lehnert V, Holzwarth J, Ott M, Thompson A, Demmak S, Foernzler D. A semi-automated system for analysis and storage of SNPs. Human Mutation, 2001, 17(4): 243-254.
[54] Zhang G, Zhang SZ, Chen W, Qiu WM, Wu H, Wang JM, Luo JC, Gu XC, Cotton RGH. Go!Poly: A gene-oriented polymorphism database. Human Mutation, 2001, 18(5): 382-387.
[55] Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NST, Abeysinghe S, Krawczak M, Cooper DN. Human Gene Mutation Database (HGMD®): 2003 update. Human Mutation, 2003, 21(6): 577-581
. [56] Tahira T, Baba S, Higasa K, Kukita Y, Suzuki Y, Sugano S, Hayashi K. dbQSNP: A database of SNPs in human pro-moter regions with allele frequency information deter-mined by single-strand conformation polymorphism-based methods. Human Mutation, 2005, 26(2): 69-77.
[57] Giardine B, Riemer C, Hefferon T, Thomas D, Hsu F, Zielenski J, Sang YH, Elnitski L, Cutting G, Trumbower H, Kern A, Kuhn R, Patrinos GP, Hughes J, Higgs D, Chui D, Scriver C, Phommarinh M, Patnaik SK, Blumenfeld O, Gottlieb B, Vihinen M, Väliaho J, Kent J, Miller W, Hard-ison RC. PhenCode: connecting ENCODE data with mu-tations and phenotype. Human Mutation, 2007, 28(6): 554-562.
[58] Yip Y L, Famiglietti M, Gos A, Duek P D, David F P A, Gateau A, Bairoch A. Annotating single amino acid poly-morphisms in the UniProt/Swiss-Prot knowledgebase. Human Mutation, 2008, 29(3): 361-366.
[59] Owen RP, Altman RB, Klein TE. PharmGKB and the In-ternational Warfarin Pharmacogenetics Consortium: the changing role for pharmacogenomic databases and sin-gle-drug pharmacogenetics. Human Mutation, 2008, 29(4): 456-460.
[60] Rhee H, Lee JSS. MedRefSNP: a database of medically investigated SNPs. Human Mutation, 2009, 30(3): E460- E466
. [61] Friedrich A, Garnier N, Gagnière N, Nguyen H, Albou LP, Biancalana V, Bettler E, Deléage G, Lecompte O, Muller J, Moras D, Mandel JL, Toursel T, Moulinier L, Poch O. SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense muta-tions in proteins involved in human genetic diseases. Human Mutation, 2010, 31(2): 127-135.
[62] Li J, Duncan DT, Zhang B. CanProVar: a human cancer proteome variation database. Human Mutation, 2010, 31(3): 219-228. |