These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
118 related articles for article (PubMed ID: 20052753)
1. The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards". Howard HJ; Horaitis O; Cotton RG; Vihinen M; Dalgleish R; Robinson P; Brookes AJ; Axton M; Hoffmann R; Tuffery-Giraud S Hum Mutat; 2010 Mar; 31(3):366-7. PubMed ID: 20052753 [TBL] [Abstract][Full Text] [Related]
2. Standard development at the Human Variome Project. Smith TD; Vihinen M; Database (Oxford); 2015; 2015():. PubMed ID: 25818894 [TBL] [Abstract][Full Text] [Related]
3. How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Kohonen-Corish MR; Al-Aama JY; Auerbach AD; Axton M; Barash CI; Bernstein I; Béroud C; Burn J; Cunningham F; Cutting GR; den Dunnen JT; Greenblatt MS; Kaput J; Katz M; Lindblom A; Macrae F; Maglott D; Möslein G; Povey S; Ramesar R; Richards S; Seminara D; Sobrido MJ; Tavtigian S; Taylor G; Vihinen M; Winship I; Cotton RG; Hum Mutat; 2010 Dec; 31(12):1374-81. PubMed ID: 20960468 [TBL] [Abstract][Full Text] [Related]
4. 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. Cotton RG; Auerbach AD; Brown AF; Carrera P; Christodoulou J; Claustres M; Compton J; Cox DW; De Baere E; den Dunnen JT; Greenblatt M; Fujiwara M; Hilbert P; Jani A; Lehvaslaiho H; Nebert DW; Verma I; Vihinen M; ; Hum Mutat; 2007 Oct; 28(10):931-2. PubMed ID: 17726697 [TBL] [Abstract][Full Text] [Related]
5. Planning the human variome project: the Spain report. Kaput J; Cotton RG; Hardman L; Watson M; Al Aqeel AI; Al-Aama JY; Al-Mulla F; Alonso S; Aretz S; Auerbach AD; Bapat B; Bernstein IT; Bhak J; Bleoo SL; Blöcker H; Brenner SE; Burn J; Bustamante M; Calzone R; Cambon-Thomsen A; Cargill M; Carrera P; Cavedon L; Cho YS; Chung YJ; Claustres M; Cutting G; Dalgleish R; den Dunnen JT; Díaz C; Dobrowolski S; dos Santos MR; Ekong R; Flanagan SB; Flicek P; Furukawa Y; Genuardi M; Ghang H; Golubenko MV; Greenblatt MS; Hamosh A; Hancock JM; Hardison R; Harrison TM; Hoffmann R; Horaitis R; Howard HJ; Barash CI; Izagirre N; Jung J; Kojima T; Laradi S; Lee YS; Lee JY; Gil-da-Silva-Lopes VL; Macrae FA; Maglott D; Marafie MJ; Marsh SG; Matsubara Y; Messiaen LM; Möslein G; Netea MG; Norton ML; Oefner PJ; Oetting WS; O'Leary JC; de Ramirez AM; Paalman MH; Parboosingh J; Patrinos GP; Perozzi G; Phillips IR; Povey S; Prasad S; Qi M; Quin DJ; Ramesar RS; Richards CS; Savige J; Scheible DG; Scott RJ; Seminara D; Shephard EA; Sijmons RH; Smith TD; Sobrido MJ; Tanaka T; Tavtigian SV; Taylor GR; Teague J; Töpel T; Ullman-Cullere M; Utsunomiya J; van Kranen HJ; Vihinen M; Webb E; Weber TK; Yeager M; Yeom YI; Yim SH; Yoo HS; Hum Mutat; 2009 Apr; 30(4):496-510. PubMed ID: 19306394 [TBL] [Abstract][Full Text] [Related]
6. [The human variome project and its progress]. Gao S; Zhang N; Zhang L; Duan GY; Zhang T Yi Chuan; 2010 Nov; 32(11):1105-13. PubMed ID: 21513160 [TBL] [Abstract][Full Text] [Related]
7. The Human Variome Project. Burn J; Watson M Hum Mutat; 2016 Jun; 37(6):505-7. PubMed ID: 26987309 [TBL] [Abstract][Full Text] [Related]
9. Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project. Oetting WS; Robinson PN; Greenblatt MS; Cotton RG; Beck T; Carey JC; Doelken SC; Girdea M; Groza T; Hamilton CM; Hamosh A; Kerner B; MacArthur JA; Maglott DR; Mons B; Rehm HL; Schofield PN; Searle BA; Smedley D; Smith CL; Bernstein IT; Zankl A; Zhao EY Hum Mutat; 2013 Apr; 34(4):661-6. PubMed ID: 23401191 [TBL] [Abstract][Full Text] [Related]
10. Initiating a Human Variome Project Country Node. AlAama J; Smith TD; Lo A; Howard H; Kline AA; Lange M; Kaput J; Cotton RG Hum Mutat; 2011 May; 32(5):501-6. PubMed ID: 21305654 [TBL] [Abstract][Full Text] [Related]
11. HGVS Recommendations for the Description of Sequence Variants: 2016 Update. den Dunnen JT; Dalgleish R; Maglott DR; Hart RK; Greenblatt MS; McGowan-Jordan J; Roux AF; Smith T; Antonarakis SE; Taschner PE Hum Mutat; 2016 Jun; 37(6):564-9. PubMed ID: 26931183 [TBL] [Abstract][Full Text] [Related]
12. Human Variome Project Quality Assessment Criteria for Variation Databases. Vihinen M; Hancock JM; Maglott DR; Landrum MJ; Schaafsma GC; Taschner P Hum Mutat; 2016 Jun; 37(6):549-58. PubMed ID: 26919176 [TBL] [Abstract][Full Text] [Related]
13. Three decades of the Human Genome Organization. Lee C; Antonarakis SE; Hamosh A; Burn J Am J Med Genet A; 2021 Nov; 185(11):3314-3321. PubMed ID: 34581472 [TBL] [Abstract][Full Text] [Related]
14. Connecting the Human Variome Project to nutrigenomics. Kaput J; Evelo CT; Perozzi G; van Ommen B; Cotton R Genes Nutr; 2010 Dec; 5(4):275-283. PubMed ID: 28300226 [TBL] [Abstract][Full Text] [Related]
15. Human Variome Project country nodes: documenting genetic information within a country. Patrinos GP; Smith TD; Howard H; Al-Mulla F; Chouchane L; Hadjisavvas A; Hamed SA; Li XT; Marafie M; Ramesar RS; Ramos FJ; de Ravel T; El-Ruby MO; Shrestha TR; Sobrido MJ; Tadmouri G; Witsch-Baumgartner M; Zilfalil BA; Auerbach AD; Carpenter K; Cutting GR; Dung VC; Grody W; Hasler J; Jorde L; Kaput J; Macek M; Matsubara Y; Padilla C; Robinson H; Rojas-Martinez A; Taylor GR; Vihinen M; Weber T; Burn J; Qi M; Cotton RG; Rimoin D; Hum Mutat; 2012 Nov; 33(11):1513-9. PubMed ID: 22753370 [TBL] [Abstract][Full Text] [Related]
16. Determination of the clinical significance of an unclassified variant. Zhang VW; Wang J Methods Mol Biol; 2012; 837():337-48. PubMed ID: 22215559 [TBL] [Abstract][Full Text] [Related]
17. Building a genome analysis pipeline to predict disease risk and prevent disease. Bromberg Y J Mol Biol; 2013 Nov; 425(21):3993-4005. PubMed ID: 23928561 [TBL] [Abstract][Full Text] [Related]
18. Defining "mutation" and "polymorphism" in the era of personal genomics. Karki R; Pandya D; Elston RC; Ferlini C BMC Med Genomics; 2015 Jul; 8():37. PubMed ID: 26173390 [TBL] [Abstract][Full Text] [Related]
19. Beyond the genomics blueprint: the 4th Human Variome Project Meeting, UNESCO, Paris, 2012. Kohonen-Corish MR; Smith TD; Robinson HM; Genet Med; 2013 Jul; 15(7):507-12. PubMed ID: 23328891 [TBL] [Abstract][Full Text] [Related]