Skip to main content

Yahya P, Sulong S, Harun A, et al. Analysis of the genetic structure of the Malay population: Ancestry-informative marker SNPs in the Malay of Peninsular Malaysia. Forensic Sci Int Genet 2017; 30: 152-9. URL DOI

Vihinen M, Hancock JM, Maglott DR, Landrum MJ, Schaafsma GC, Taschner P. Human Variome Project Quality Assessment Criteria for Variation Databases. Hum Mutat 2016; 37(6): 549-58. URL DOI

Vihinen M. Establishment of an international database for genetic variants in esophageal cancer. Ann N Y Acad Sci 2016; 1381(1): 45-9. URL DOI

Hassan NN, Plazzer JP, Smith TD, et al. Harmonizing the interpretation of genetic variants across the world: the Malaysian experience. BMC Res Notes 2016; 9: 125. URL DOI

den Dunnen JT, Dalgleish R, Maglott DR, et al. HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Hum Mutat 2016; 37(6): 564-9. URL DOI

Burn J, Watson M. The Human Variome Project. Hum Mutat 2016; 37(6): 505-7. URL DOI

Vihinen M. Muddled genetic terms miss and mess the message. Trends Genet 2015; 31(8): 423-5. URL DOI

Smith TD, Vihinen M, Project HV. Standard development at the Human Variome Project. Database-Oxford 2015. URL

Smith T, Taylor G. Richard Graham Hay Cotton 1940-2015. Nat Genet 2015; 47(8): 850. URL DOI

Savige J, Dalgleish R, Cotton RG, den Dunnen JT, Macrae F, Povey S. The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease. Pediatr Nephrol 2015; 30(11): 1893-901. URL DOI

Halim-Fikri H, Etemad A, Abdul Latif AZ, et al. The first Malay database toward the ethnic-specific target molecular variation. BMC Res Notes 2015; 8: 176. URL DOI

The Editor. Marshaling the Variome. Nat Genet 2015; 47(8): 849. URL DOI

Savige J, Dagher H, Povey S. Mutation databases for inherited renal disease: are they complete, accurate, clinically relevant, and freely available? Hum Mutat 2014; 35(7): 791-3. URL DOI

International Alport Mutation C, Savige J, Ars E, et al. DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome. Pediatr Nephrol 2014; 29(6): 971-7. URL DOI

Cotton RG, Langer R, Leong T, et al. Coping with esophageal cancer approaches worldwide. Ann N Y Acad Sci 2014; 1325: 138-58. URL DOI

Cotton R. Human variome project - current overview. Molecular cytogenetics 2014; 7(Suppl 1 Proceedings of the International Conference on Human): I1. URL DOI

Bennetts B, Caramins M, Hsu A, et al. Quality standards for DNA sequence variation databases to improve clinical management under development in Australia. Appl Transl Genom 2014; 3(3): 54-7. URL DOI

Plazzer JP, Sijmons RH, Woods MO, et al. The InSiGHT database: utilizing 100 years of insights into Lynch syndrome. Fam Cancer 2013; 12(2): 175-80. URL DOI

Oetting WS, Robinson PN, Greenblatt MS, et al. Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project. Hum Mutat 2013; 34(4): 661-6. URL DOI

Kohonen-Corish MR, Smith TD, Robinson HM, delegates of the 4th Biennial Meeting of the Human Variome Project C. Beyond the genomics blueprint: the 4th Human Variome Project Meeting, UNESCO, Paris, 2012. Genet Med 2013; 15(7): 507-12. URL DOI

The Editor. Abstracts of InSiGHT 5th Biennial Meeting. Pedigree, familial aspects of cancer and the Human Variome Project in conjunction with the COSA Familial Cancer Group. August 28-31, 2013. Fam Cancer 2013; 12 Suppl 2: S29-110. URL DOI

Vihinen M, den Dunnen JT, Dalgleish R, Cotton RG. Guidelines for establishing locus specific databases. Hum Mutat 2012; 33(2): 298-305. URL DOI

Sobrido MJ, Cacheiro P, Carracedo A, Bertram L. Databases for neurogenetics: introduction, overview, and challenges. Hum Mutat 2012; 33(9): 1311-4. URL DOI

Smith TD, Robinson HM, Cotton RG. The Human Variome Project Beijing meeting. J Med Genet 2012; 49(4): 284-9. URLDOI

Plazzer JP, den Dunnen JT, Smith T, Macrae F, Cotton RG. Reporting of Genetic Variants by Diagnostic Laboratories and other Centres. Clin Biochem Rev 2012; 33(1): 21-4. URL

Patrinos GP, Smith TD, Howard H, et al. Human Variome Project country nodes: documenting genetic information within a country. Hum Mutat 2012; 33(11): 1513-9. URL DOI

Lill CM, Bertram L. Developing the "next generation" of genetic association databases for complex diseases. Hum Mutat 2012; 33(9): 1366-72. URL DOI

Howard HJ, Beaudet A, Gil-da-Silva Lopes V, et al. Disease-specific databases: why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011. Am J Med Genet A 2012; 158A(11): 2763-6. URL DOI

Hersheson J, Haworth A, Houlden H. The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics. Hum Mutat 2012; 33(9): 1324-32. URL DOI

Hammond P, Suttie M. Large-scale objective phenotyping of 3D facial morphology. Hum Mutat 2012; 33(5): 817-25. URL DOI

Elson JL, Sweeney MG, Procaccio V, et al. Toward a mtDNA locus-specific mutation database using the LOVD platform. Hum Mutat 2012; 33(9): 1352-8. URL DOI

Celli J, Dalgleish R, Vihinen M, Taschner PE, den Dunnen JT. Curating gene variant databases (LSDBs): toward a universal standard. Hum Mutat 2012; 33(2): 291-7. URL DOI

Taschner PE, den Dunnen JT. Describing structural changes by extending HGVS sequence variation nomenclature. Hum Mutat 2011; 32(5): 507-11. URL DOI

Samuels ME, Rouleau GA. The case for locus-specific databases. Nat Rev Genet 2011; 12(6): 378-9. URL DOI

Patrinos GP, Al Aama J, Al Aqeel A, et al. Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection. Hum Mutat 2011; 32(1): 2-9. URL DOI

Pan M, Cong P, Wang Y, et al. Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population. Hum Mutat 2011; 32(12): 1335-40. URL DOI

Ozdemir V, Rosenblatt DS, Warnich L, et al. Towards an Ecology of Collective Innovation: Human Variome Project (HVP), Rare Disease Consortium for Autosomal Loci (RaDiCAL) and Data-Enabled Life Sciences Alliance (DELSA). Curr Pharmacogenomics Person Med 2011; 9(4): 243-51. URL

Moller P, Clark N. CGEN--a Clinical GENetics software application. Hum Mutat 2011; 32(5): 537-42. URL DOI

Lopes P, Dalgleish R, Oliveira JL. WAVe: web analysis of the variome. Hum Mutat 2011; 32(7): 729-34. URL DOI

Lindblom A, Robinson PN. Bioinformatics for human genetics: promises and challenges. Hum Mutat 2011; 32(5): 495-500. URL DOI

Kohonen-Corish MR, Macrae F, Genuardi M, et al. Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Hum Mutat 2011; 32(4): 491-4. URL DOI

Haworth A, Bertram L, Carrera P, et al. Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics 2011; 12(3): 169-73. URL DOI

Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat 2011; 32(5): 557-63. URL DOI

Cotton RG, Vihinen M, den Dunnen JT, Human Variome Project N, Standards G. Genetic tests need the Human Variome Project. Genet Test Mol Biomarkers 2011; 15(1-2): 3. URL DOI

Cotton RG. Rare disease registries and mutation/variation databases. Hum Mutat 2011; 32(10): 1073-4. URLDOI

Cassereau J, Chevrollier A, Bonneau D, et al. A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K. Orphanet J Rare Dis 2011; 6: 87. URL DOI

Auerbach AD, Burn J, Cassiman JJ, et al. Mutation (variation) databases and registries: a rationale for coordination of efforts. Nat Rev Genet 2011; 12(12): 881; discussion URL DOI

AlAama J, Smith TD, Lo A, et al. Initiating a Human Variome Project Country Node. Hum Mutat 2011; 32(5): 501-6. URL DOI

The Editor. Crowdsourcing human mutations. Nat Genet 2011; 43(4): 279. URL DOI

Povey S, Al Aqeel AI, Cambon-Thomsen A, et al. Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Hum Mutat 2010; 31(11): 1179-84. URL DOI

Mitropoulou C, Webb AJ, Mitropoulos K, Brookes AJ, Patrinos GP. Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use. Hum Mutat 2010; 31(10): 1109-16. URL DOI

Massie RJ, Delatycki MB. Reducing the burden of inherited disease: the Human Variome Project. Med J Aust 2010; 193(7): 430-1. URL

Kohonen-Corish MR, Al-Aama JY, Auerbach AD, et al. How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Hum Mutat 2010; 31(12): 1374-81. URL DOI

Kohonen-Corish M, Weber TK, Lindblom A, Macrae F, Meeting P. Report of the combined meeting of the International Society for Gastrointestinal Hereditary Tumours, the Human Variome Project and the National Cancer Institute Colon Cancer Family Registry, Duesseldorf, Germany, 24 June 2009. Fam Cancer 2010; 9(4): 705-11. URL DOI

Kaput J, Evelo CT, Perozzi G, van Ommen B, Cotton R. Connecting the Human Variome Project to nutrigenomics. Genes Nutr 2010; 5(4): 275-83. URL DOI

Howard HJ, Horaitis O, Cotton RG, et al. The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards". Hum Mutat 2010; 31(3): 366-7. URL DOI

Gao S, Zhang N, Zhang L, Duan GY, Zhang T. [The human variome project and its progress]. Yi Chuan 2010; 32(11): 1105-13. URL

Cotton RG, Macrae FA. Reducing the burden of inherited disease: the Human Variome Project. Med J Aust 2010; 192(11): 628-9.  URL

Olivier M, Petitjean A, Teague J, et al. Somatic Mutation Databases as Tools for Molecular Epidemiology and Molecular Pathology of Cancer: Proposed Guidelines for Improving Data Collection, Distribution, and Integration. Hum Mutat 2009; 30(3): 275-82. URL

Kaput J, Cotton RG, Hardman L, et al. Planning the human variome project: the Spain report. Hum Mutat 2009; 30(4): 496-510. URL DOI

 Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 2009; 37(9): e67. URL DOI

den Dunnen JT, Sijmons RH, Andersen PS, et al. Sharing Data between LSDBs and Central Repositories. Hum Mutat 2009; 30(4): 493-5. URL

Cotton RG, Al Aqeel AI, Al-Mulla F, et al. Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project. Genet Med 2009; 11(12): 843-9. URL DOI

Cotton RG. Collection of variation causing disease--the Human Variome Project. Hum Genomics 2009; 3(4): 301-3. URL

Brookes AJ, Lehvaslaiho H, Muilu J, et al. The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation. Hum Mutat 2009; 30(6): 968-77. URL DOI

Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PEM. Improving sequence variant descriptions in mutation Databases and literature using the mutalyzer sequence variation nomenclature checker. Hum Mutat 2008; 29(1): 6-13. URL

Plon SE, Eccles DM, Easton D, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008; 29(11): 1282-91. URL DOI

Cotton RGH, Auerbach AD, Beckmann JS, et al. Recommendations for locus-speciific databases and their curation. Hum Mutat 2008; 29(1): 2-5. URL

Cotton RG, Auerbach AD, Axton M, et al. GENETICS. The Human Variome Project. Science (New York, NY) 2008; 322(5903): 861-2. URL DOI

The Editor.  Human variome microattribution reviews. Nature Genetics 2008; 40(1): 1-. URL

Horaitis O, Talbot CC, Jr., Phommarinh M, Phillips KM, Cotton RG. A database of locus-specific databases. Nat Genet 2007; 39(4): 425. URL DOI

Cotton RGH, Auerbach AD, Brown AF, et al. A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases. Hum Mutat 2007; 28(10): 931-2. URL

Cotton RG, Human Variome P, Appelbe W, et al. Recommendations of the 2006 Human Variome Project meeting. Nat Genet 2007; 39(4): 433-6. URL DOI

The Editor.  Compete, collaborate, compel. Nat Genet 2007; 39(8): 931. URL  DOI

The Editor.  What is the human variome project? Nat Genet 2007; 39(4): 423. URL DOI

Ring HZ, Kwok PY, Cotton RG. Human Variome Project: an international collaboration to catalogue human genetic variation. Pharmacogenomics 2006; 7(7): 969-72. URL DOI

The Editor. The germinating seed of Arab genomics. Nat Genet 2006; 38(8): 851. URL DOI

Patrinos GP, Brookes AJ. DNA, diseases and databases: disastrously deficient. Trends Genet 2005; 21(6): 333-8. URL DOI

Cotton RG, Sallee C, Knoppers BM. Locus-specific databases: from ethical principles to practice. Hum Mutat 2005; 26(5): 489-93. URL DOI

Horaitis O, Cotton RG. The challenge of documenting mutation across the genome: the human genome variation society approach. Hum Mutat 2004; 23(5): 447-52. URL DOI

den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000; 15(1): 7-12. URL DOI