Mutation Databases for Inherited Renal Disease: Are They Complete, Accurate, Clinically Relevant, and Freely Available?

Human Mutation

Volumn 35, Issue 7, 2014, Pages 791-793

  Savige, Judy ^a   Dagher, Hayat ^a   Povey, Sue ^b  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Alport syndrome; DNA variants; Inherited kidney disease; Mutation databases; Polycystic kidney disease; Tuberous sclerosis

Indexed keywords

ACCURACY; ARTICLE; CLINICAL FEATURE; COPY NUMBER VARIATION; GENE; GENE MUTATION; GENE NUMBER; GENETIC DATABASE; GENETIC VARIABILITY; HUMAN; INHERITANCE; KIDNEY DISEASE; PHENOTYPE; PRIORITY JOURNAL; GENETIC DISORDER; GENETICS; INTERNET; MUTATION; WEB BROWSER;

DATABASES, GENETIC; GENETIC DISEASES, INBORN; HUMANS; INTERNET; KIDNEY DISEASES; MUTATION; WEB BROWSER;

EID: 84902080593     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22588     Document Type: Article

References (18)

1. Bettencourt C, Quintans B, Ros R, Ampuero I, Yanez Z, Pascual SI, de Yebenes JG, Sobrido MJ. 2012. Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias. Hum Mutat 33:1315-1323.
2. Celli J, Dalgleish R, Vihinen M, Taschner PE, denDunnen JT. 2012. Curating gene variant databases (LSDBs): toward a universal standard. Hum Mutat 33:291-297.
3. Claustres M, Horaitis O, Vanevski M, Cotton RG. 2002. Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases. Genome Res 12:680-688.
4. Cotton RG. 2000. Progress of the HUGO mutation database initiative: a brief introduction to the human mutation MDI special issue. Hum Mutat 15:4-6.
5. Cruts M, Theuns J, Van Broeckhoven C. 2012. Locus-specific mutation databases for neurodegenerative brain diseases. Hum Mutat 33:1340-1344.
6. Fokkema IF, denDunnen JT, Taschner PE. 2005. LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat 26:63-68.
7. Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, denDunnen JT. 2011. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat 32:557-563.
8. George RA, Smith TD, Callaghan S, Hardman L, Pierides C, Horaitis O, Wouters MA, Cotton RG. 2008. General mutation databases: analysis and review. J Med Genet 45:65-70.
9. Gout AM, Ravine D, Harris PC, Rossetti S, Peters D, Breuning M, Henske EP, Koizumi A, Inoue S, Shimizu Y, Thongnoppakhun W, Yenchitsomanus P, et al. 2007. Analysis of published PKD1 gene sequence variants. Nat Genet 39:427-428.
10. Hersheson J, Haworth A, Houlden H. 2012. The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics. Hum Mutat 33:1324-1332.
11. Hildebrandt F. 2010. Genetic kidney diseases. Lancet 375:1287-1295.
12. Murphy JA, Barrantes-Reynolds R, Kocherlakota R, Bond JP, Greenblatt MS. 2004. The CDKN2A database: integrating allelic variants with evolution, structure, function, and disease association. Hum Mutat 24:296-304.
13. Park MH, Koo SK, Lee JS, Yoo HW, Kim JW, Cheong HI, Park HY. 2012. KMD: Korean mutation database for genes related to diseases. Hum Mutat 33:E2332-E2340.
14. Povey S, Al Aqeel AI, Cambon-Thomsen A, Dalgleish R, denDunnen JT, Firth HV, Greenblatt MS, Barash CI, Parker M, Patrinos GP, Savige J, Sobrido MJ, Winship I, Cotton RGH, et al. 2010. Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Hum Mutat 31:1179-1184.
15. Rosenberg NA, Pritchard JK, Weber JL, Cann HM, Kidd KK, Zhivotovsky LA, Feldman MW. 2002. Genetic structure of human populations. Science 298:2381-2385.
16. Samuels ME, Rouleau GA. 2011. The case for locus-specific databases. Nat Rev Genet 12:378-379.
17. Sobrido MJ, Cacheiro P, Carracedo A, Bertram L. 2012. Databases for neurogenetics: introduction, overview, and challenges. Hum Mutat 33:1311-1314.
18. Vihinen M, denDunnen JT, Dalgleish R, Cotton RG. 2012. Guidelines for establishing locus specific databases. Hum Mutat 33:298-305.