Planning the Human Variome Project: The Spain Report

Kaput J, Cotton RGH, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, et al. (2009)
HUMAN MUTATION 30(4): 496-510.

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Abstract / Bemerkung
The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge and the tools (e.g., microarrays) are sufficient for many if not most biomedical research efforts. A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for further efforts to characterize the variation in the human genome. Because variation in genotype and environment are the fundamental basis to understand phenotypic variability and heritability at the population level, identifying the range of human genetic variation is crucial to the development of personalized nutrition and medicine. The Human Variome Project (HVP; http://www.humanvariomeproject.org/) was proposed initially to systematically collect mutations that cause human disease and create a cyber infrastructure to link locus specific databases (LSDB). We report here the discussions and recommendations from the 2008 HVP planning meeting held in San Feliu de Guixols Spain, in May 2008. Hum Mutat 30, 496-510, 2009. (C) 2009 Wiley-Liss, Inc.
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HUMAN MUTATION
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30
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496-510
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Kaput J, Cotton RGH, Hardman L, et al. Planning the Human Variome Project: The Spain Report. HUMAN MUTATION. 2009;30(4):496-510.
Kaput, J., Cotton, R. G. H., Hardman, L., Watson, M., Al Aqeel, A. I., Al-Aama, J. Y., Al-Mulla, F., et al. (2009). Planning the Human Variome Project: The Spain Report. HUMAN MUTATION, 30(4), 496-510. doi:10.1002/humu.20972
Kaput, J., Cotton, R. G. H., Hardman, L., Watson, M., Al Aqeel, A. I., Al-Aama, J. Y., Al-Mulla, F., Alonso, S., Aretz, S., Auerbach, A. D., et al. (2009). Planning the Human Variome Project: The Spain Report. HUMAN MUTATION 30, 496-510.
Kaput, J., et al., 2009. Planning the Human Variome Project: The Spain Report. HUMAN MUTATION, 30(4), p 496-510.
J. Kaput, et al., “Planning the Human Variome Project: The Spain Report”, HUMAN MUTATION, vol. 30, 2009, pp. 496-510.
Kaput, J., Cotton, R.G.H., Hardman, L., Watson, M., Al Aqeel, A.I., Al-Aama, J.Y., Al-Mulla, F., Alonso, S., Aretz, S., Auerbach, A.D., Bapat, B., Bernstein, I.T., Bhak, J., Bleoo, S.L., Bloecker, H., Brenner, S.E., Burn, J., Bustamante, M., Calone, R., Cambon-Thomsen, A., Cargill, M., Carrera, P., Cavedon, L., Cho, Y.S., Chung, Y.-J., Claustres, M., Cutting, G., Dalgleish, R., den Dunnen, J.T., Diaz, C., Dobrowolski, S., dos Santos, M.R.N., Ekong, R., Flanagan, S.B., Flicek, P., Furukawa, Y., Genuardi, M., Ghang, H., Golubenko, M.V., Greenblatt, M.S., Hamosh, A., Hancock, J.M., Hardison, R., Harrison, T.M., Hoffmann, R., Horaitis, R., Howard, H.J., Barash, C.I., Izagirre, N., Jung, J., Kojima, T., Laradi, S., Lee, Y.-S., Lee, J.-Y., Gil-da-Silva-Lopes, V.L., Macrae, F.A., Maglott, D., Marafie, M.J., Marsh, S.G.E., Matsubara, Y., Messiaen, L.M., Moeslein, G., Netea, M.G., Norton, M.L., Oefner, P.J., Oetting, W.S., O'Leary, J.C., Oller de Ramirez, A.M., Paalman, M.H., Parboosingh, J., Patrinos, G.P., Perozzi, G., Phillips, I.R., Povey, S., Prasad, S., Qi, M., Quin, D.J., Ramesar, R.S., Richards, C.S., Savige, J., Scheible, D.G., Scott, R.J., Seminara, D., Shephard, E.A., Sijmons, R.H., Smith, T.D., Sobrido, M.-J., Tanaka, T., Tavtigian, S.V., Taylor, G.R., Teague, J., Töpel, T., Ullman-Cullere, M., Utsunomiya, J., van Kranen, H.J., Vihinen, M., Webb, E., Weber, T.K., Yeager, M., Yeom, Y.I., Yim, S.-H., Yoo, H.-S.: Planning the Human Variome Project: The Spain Report. HUMAN MUTATION. 30, 496-510 (2009).
Kaput, Jim, Cotton, Richard G. H., Hardman, Lauren, Watson, Michael, Al Aqeel, Aida I., Al-Aama, Jumana Y., Al-Mulla, Fahd, Alonso, Santos, Aretz, Stefan, Auerbach, Arleen D., Bapat, Bharati, Bernstein, Inge T., Bhak, Jong, Bleoo, Stacey L., Bloecker, Helmut, Brenner, Steven E., Burn, John, Bustamante, Mariona, Calone, Rita, Cambon-Thomsen, Anne, Cargill, Michele, Carrera, Paola, Cavedon, Lawrence, Cho, Yoon Shin, Chung, Yeun-Jun, Claustres, Mireille, Cutting, Garry, Dalgleish, Raymond, den Dunnen, Johan T., Diaz, Carlos, Dobrowolski, Steven, dos Santos, M. Rosario N., Ekong, Rosemary, Flanagan, Simon B., Flicek, Paul, Furukawa, Yoichi, Genuardi, Maurizio, Ghang, Ho, Golubenko, Maria V., Greenblatt, Marc S., Hamosh, Ada, Hancock, John M., Hardison, Ross, Harrison, Terence M., Hoffmann, Robert, Horaitis, Rania, Howard, Heather J., Barash, Carol Isaacson, Izagirre, Neskuts, Jung, Jongsun, Kojima, Toshio, Laradi, Sandrine, Lee, Yeon-Su, Lee, Jong-Young, Gil-da-Silva-Lopes, Vera L., Macrae, Finlay A., Maglott, Donna, Marafie, Makia J., Marsh, Steven G. E., Matsubara, Yoichi, Messiaen, Ludwine M., Moeslein, Gabriela, Netea, Mihai G., Norton, Melissa L., Oefner, Peter J., Oetting, William S., O'Leary, James C., Oller de Ramirez, Ana Maria, Paalman, Mark H., Parboosingh, Jillian, Patrinos, George P., Perozzi, Giuditta, Phillips, Ian R., Povey, Sue, Prasad, Suyash, Qi, Ming, Quin, David J., Ramesar, Rajkumar S., Richards, C. Sue, Savige, Judith, Scheible, Dagmar G., Scott, Rodney J., Seminara, Daniela, Shephard, Elizabeth A., Sijmons, Rolf H., Smith, Timothy D., Sobrido, Maria-Jesus, Tanaka, Toshihiro, Tavtigian, Sean V., Taylor, Graham R., Teague, Jon, Töpel, Thoralf, Ullman-Cullere, Mollie, Utsunomiya, Joji, van Kranen, Henk J., Vihinen, Mauno, Webb, Elizabeth, Weber, Thomas K., Yeager, Meredith, Yeom, Young I., Yim, Seon-Hee, and Yoo, Hyang-Sook. “Planning the Human Variome Project: The Spain Report”. HUMAN MUTATION 30.4 (2009): 496-510.

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International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallee C, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Tsunoda T, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, Daly MJ, Altshuler D, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT, Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'Archeveque P, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J., Nature 449(7164), 2007
PMID: 17943122
PhenCode: connecting ENCODE data with mutations and phenotype.
Giardine B, Riemer C, Hefferon T, Thomas D, Hsu F, Zielenski J, Sang Y, 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, Valiaho J, Kent J, Miller W, Hardison RC., Hum. Mutat. 28(6), 2007
PMID: 17326095
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.
Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA., Nucleic Acids Res. 33(Database issue), 2005
PMID: 15608251
Adaptations to climate in candidate genes for common metabolic disorders.
Hancock AM, Witonsky DB, Gordon AS, Eshel G, Pritchard JK, Coop G, Di Rienzo A., PLoS Genet. 4(2), 2008
PMID: 18282109
Whole-genome patterns of common DNA variation in three human populations.
Hinds DA, Stuve LL, Nilsen GB, Halperin E, Eskin E, Ballinger DG, Frazer KA, Cox DR., Science 307(5712), 2005
PMID: 15718463
A wiki for the life sciences where authorship matters.
Hoffmann R., Nat. Genet. 40(9), 2008
PMID: 18728691
A database of locus-specific databases.
Horaitis O, Talbot CC Jr, Phommarinh M, Phillips KM, Cotton RG., Nat. Genet. 39(4), 2007
PMID: 17392794
Genetic variation, classification and 'race'.
Jorde LB, Wooding SP., Nat. Genet. 36(11 Suppl), 2004
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Nutrigenomics research for personalized nutrition and medicine.
Kaput J., Curr. Opin. Biotechnol. 19(2), 2008
PMID: 18387295
The case for strategic international alliances to harness nutritional genomics for public and personal health.
Kaput J, Ordovas JM, Ferguson L, van Ommen B, Rodriguez RL, Allen L, Ames BN, Dawson K, German B, Krauss R, Malyj W, Archer MC, Barnes S, Bartholomew A, Birk R, van Bladeren P, Bradford KJ, Brown KH, Caetano R, Castle D, Chadwick R, Clarke S, Clement K, Cooney CA, Corella D, Manica da Cruz IB, Daniel H, Duster T, Ebbesson SO, Elliott R, Fairweather-Tait S, Felton J, Fenech M, Finley JW, Fogg-Johnson N, Gill-Garrison R, Gibney MJ, Gillies PJ, Gustafsson JA, Hartman JL 4th, He L, Hwang JK, Jais JP, Jang Y, Joost H, Junien C, Kanter M, Kibbe WA, Koletzko B, Korf BR, Kornman K, Krempin DW, Langin D, Lauren DR, Ho Lee J, Leveille GA, Lin SJ, Mathers J, Mayne M, McNabb W, Milner JA, Morgan P, Muller M, Nikolsky Y, van der Ouderaa F, Park T, Pensel N, Perez-Jimenez F, Poutanen K, Roberts M, Saris WH, Schuster G, Shelling AN, Simopoulos AP, Southon S, Tai ES, Towne B, Trayhurn P, Uauy R, Visek WJ, Warden C, Weiss R, Wiencke J, Winkler J, Wolff GL, Zhao-Wilson X, Zucker JD., Br. J. Nutr. 94(5), 2005
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Defining the spectrum of alleles that contribute to blood lipid concentrations in humans.
Kathiresan S, Musunuru K, Orho-Melander M., Curr. Opin. Lipidol. 19(2), 2008
PMID: 18388691
Tracing biological collections: between books and clinical trials.
Kauffmann F, Cambon-Thomsen A., JAMA 299(19), 2008
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The Public Population Project in Genomics (P3G): a proof of concept?
Knoppers BM, Fortier I, Legault D, Burton P., Eur. J. Hum. Genet. 16(6), 2008
PMID: 18382478
Initial sequencing and analysis of the human genome.
Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, Devon K, Dewar K, Doyle M, FitzHugh W, Funke R, Gage D, Harris K, Heaford A, Howland J, Kann L, Lehoczky J, LeVine R, McEwan P, McKernan K, Meldrim J, Mesirov JP, Miranda C, Morris W, Naylor J, Raymond C, Rosetti M, Santos R, Sheridan A, Sougnez C, Stange-Thomann Y, Stojanovic N, Subramanian A, Wyman D, Rogers J, Sulston J, Ainscough R, Beck S, Bentley D, Burton J, Clee C, Carter N, Coulson A, Deadman R, Deloukas P, Dunham A, Dunham I, Durbin R, French L, Grafham D, Gregory S, Hubbard T, Humphray S, Hunt A, Jones M, Lloyd C, McMurray A, Matthews L, Mercer S, Milne S, Mullikin JC, Mungall A, Plumb R, Ross M, Shownkeen R, Sims S, Waterston RH, Wilson RK, Hillier LW, McPherson JD, Marra MA, Mardis ER, Fulton LA, Chinwalla AT, Pepin KH, Gish WR, Chissoe SL, Wendl MC, Delehaunty KD, Miner TL, Delehaunty A, Kramer JB, Cook LL, Fulton RS, Johnson DL, Minx PJ, Clifton SW, Hawkins T, Branscomb E, Predki P, Richardson P, Wenning S, Slezak T, Doggett N, Cheng JF, Olsen A, Lucas S, Elkin C, Uberbacher E, Frazier M, Gibbs RA, Muzny DM, Scherer SE, Bouck JB, Sodergren EJ, Worley KC, Rives CM, Gorrell JH, Metzker ML, Naylor SL, Kucherlapati RS, Nelson DL, Weinstock GM, Sakaki Y, Fujiyama A, Hattori M, Yada T, Toyoda A, Itoh T, Kawagoe C, Watanabe H, Totoki Y, Taylor T, Weissenbach J, Heilig R, Saurin W, Artiguenave F, Brottier P, Bruls T, Pelletier E, Robert C, Wincker P, Smith DR, Doucette-Stamm L, Rubenfield M, Weinstock K, Lee HM, Dubois J, Rosenthal A, Platzer M, Nyakatura G, Taudien S, Rump A, Yang H, Yu J, Wang J, Huang G, Gu J, Hood L, Rowen L, Madan A, Qin S, Davis RW, Federspiel NA, Abola AP, Proctor MJ, Myers RM, Schmutz J, Dickson M, Grimwood J, Cox DR, Olson MV, Kaul R, Raymond C, Shimizu N, Kawasaki K, Minoshima S, Evans GA, Athanasiou M, Schultz R, Roe BA, Chen F, Pan H, Ramser J, Lehrach H, Reinhardt R, McCombie WR, de la Bastide M, Dedhia N, Blocker H, Hornischer K, Nordsiek G, Agarwala R, Aravind L, Bailey JA, Bateman A, Batzoglou S, Birney E, Bork P, Brown DG, Burge CB, Cerutti L, Chen HC, Church D, Clamp M, Copley RR, Doerks T, Eddy SR, Eichler EE, Furey TS, Galagan J, Gilbert JG, Harmon C, Hayashizaki Y, Haussler D, Hermjakob H, Hokamp K, Jang W, Johnson LS, Jones TA, Kasif S, Kaspryzk A, Kennedy S, Kent WJ, Kitts P, Koonin EV, Korf I, Kulp D, Lancet D, Lowe TM, McLysaght A, Mikkelsen T, Moran JV, Mulder N, Pollara VJ, Ponting CP, Schuler G, Schultz J, Slater G, Smit AF, Stupka E, Szustakowki J, Thierry-Mieg D, Thierry-Mieg J, Wagner L, Wallis J, Wheeler R, Williams A, Wolf YI, Wolfe KH, Yang SP, Yeh RF, Collins F, Guyer MS, Peterson J, Felsenfeld A, Wetterstrand KA, Patrinos A, Morgan MJ, de Jong P, Catanese JJ, Osoegawa K, Shizuya H, Choi S, Chen YJ, Szustakowki J; International Human Genome Sequencing Consortium., Nature 409(6822), 2001
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Three sequencing companies join the 1000 genomes project.
Lang L., Gastroenterology 135(2), 2008
PMID: 18619457
Correlation between genetic and geographic structure in Europe.
Lao O, Lu TT, Nothnagel M, Junge O, Freitag-Wolf S, Caliebe A, Balascakova M, Bertranpetit J, Bindoff LA, Comas D, Holmlund G, Kouvatsi A, Macek M, Mollet I, Parson W, Palo J, Ploski R, Sajantila A, Tagliabracci A, Gether U, Werge T, Rivadeneira F, Hofman A, Uitterlinden AG, Gieger C, Wichmann HE, Ruther A, Schreiber S, Becker C, Nurnberg P, Nelson MR, Krawczak M, Kayser M., Curr. Biol. 18(16), 2008
PMID: 18691889
The diploid genome sequence of an individual human.
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., PLoS Biol. 5(10), 2007
PMID: 17803354
Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.
Lim U, Wang SS, Hartge P, Cozen W, Kelemen LE, Chanock S, Davis S, Blair A, Schenk M, Rothman N, Lan Q., Blood 109(7), 2007
PMID: 17119116
Review article: lactose intolerance in clinical practice--myths and realities.
Lomer MC, Parkes GC, Sanderson JD., Aliment. Pharmacol. Ther. 27(2), 2007
PMID: 17956597
The NCBI dbGaP database of genotypes and phenotypes.
Mailman MD, Feolo M, Jin Y, Kimura M, Tryka K, Bagoutdinov R, Hao L, Kiang A, Paschall J, Phan L, Popova N, Pretel S, Ziyabari L, Lee M, Shao Y, Wang ZY, Sirotkin K, Ward M, Kholodov M, Zbicz K, Beck J, Kimelman M, Shevelev S, Preuss D, Yaschenko E, Graeff A, Ostell J, Sherry ST., Nat. Genet. 39(10), 2007
PMID: 17898773
1H NMR metabonomics approach to the disease continuum of diabetic complications and premature death.
Makinen VP, Soininen P, Forsblom C, Parkkonen M, Ingman P, Kaski K, Groop PH; FinnDiane Study Group, Ala-Korpela M., Mol. Syst. Biol. 4(), 2008
PMID: 18277383
The prevalence of folate-remedial MTHFR enzyme variants in humans.
Marini NJ, Gin J, Ziegle J, Keho KH, Ginzinger D, Gilbert DA, Rine J., Proc. Natl. Acad. Sci. U.S.A. 105(23), 2008
PMID: 18523009
Community Based Participatory Research and Omics Technologies
McCabe-Sellers B, Lovera D, Nuss H, Wise C, Green B, Teitel C, Ning B, Clark B, Bogle M, Kaput J., 2008
LOINC, a universal standard for identifying laboratory observations: a 5-year update.
McDonald CJ, Huff SM, Suico JG, Hill G, Leavelle D, Aller R, Forrey A, Mercer K, DeMoor G, Hook J, Williams W, Case J, Maloney P., Clin. Chem. 49(4), 2003
PMID: 12651816
A 60-year tale of spots, maps, and genes.
McKusick VA., Annu Rev Genomics Hum Genet 7(), 2006
PMID: 16824022
Mendelian Inheritance in Man and its online version, OMIM.
McKusick VA., Am. J. Hum. Genet. 80(4), 2007
PMID: 17357067
International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers.
Metcalfe KA, Birenbaum-Carmeli D, Lubinski J, Gronwald J, Lynch H, Moller P, Ghadirian P, Foulkes WD, Klijn J, Friedman E, Kim-Sing C, Ainsworth P, Rosen B, Domchek S, Wagner T, Tung N, Manoukian S, Couch F, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group., Int. J. Cancer 122(9), 2008
PMID: 18196574
Lactose and lactase--who is lactose intolerant and why?
Montgomery RK, Krasinski SD, Hirschhorn JN, Grand RJ., J. Pediatr. Gastroenterol. Nutr. 45 Suppl 2(), 2007
PMID: 18185074
Worldwide population differentiation at disease-associated SNPs.
Myles S, Davison D, Barrett J, Stoneking M, Timpson N., BMC Med Genomics 1(), 2008
PMID: 18533027
Identification and analysis of genomic regions with large between-population differentiation in humans.
Myles S, Tang K, Somel M, Green RE, Kelso J, Stoneking M., Ann. Hum. Genet. 72(Pt 1), 2008
PMID: 18184145
Automated splicing mutation analysis by information theory.
Nalla VK, Rogan PK., Hum. Mutat. 25(4), 2005
PMID: 15776446
The Population Reference Sample, POPRES: a resource for population, disease, and pharmacological genetics research.
Nelson MR, Bryc K, King KS, Indap A, Boyko AR, Novembre J, Briley LP, Maruyama Y, Waterworth DM, Waeber G, Vollenweider P, Oksenberg JR, Hauser SL, Stirnadel HA, Kooner JS, Chambers JC, Jones B, Mooser V, Bustamante CD, Roses AD, Burns DK, Ehm MG, Lai EH., Am. J. Hum. Genet. 83(3), 2008
PMID: 18760391
Genes mirror geography within Europe
Novembre J, Johnson T, Bryc K, Kutalik Z, Boyko AR, Auton A, Indap A, King KS, Bergmann S, Nelson MR., 2008
Gene-Environment Interactions: Defining the Playfield
Ordovas JM, Corella D., 2006
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
Ou J, Niessen RC, Lutzen A, Sijmons RH, Kleibeuker JH, de Wind N, Rasmussen LJ, Hofstra RM., Hum. Mutat. 28(11), 2007
PMID: 17594722
GeneTests-GeneClinics: genetic testing information for a growing audience.
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., Hum. Mutat. 19(5), 2002
PMID: 11968082
A new scientific journal linked to a genetic database: Towards a novel publication modality
Patrinos G, Petricoin E., 2009
DNA, diseases and databases: disastrously deficient.
Patrinos GP, Brookes AJ., Trends Genet. 21(6), 2005
PMID: 15922832
Diet and the evolution of human amylase gene copy number variation.
Perry GH, Dominy NJ, Claw KG, Lee AS, Fiegler H, Redon R, Werner J, Villanea FA, Mountain JL, Misra R, Carter NP, Lee C, Stone AC., Nat. Genet. 39(10), 2007
PMID: 17828263
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.
Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV; IARC Unclassified Genetic Variants Working Group, Boffetta P, Couch F, de Wind N, Easton D, Eccles D, Foulkes W, Genuardi M, Goldgar D, Greenblatt M, Hofstra R, Hogervorst F, Hoogerbrugge N, Plon S, Radice P, Rasmussen L, Sinilnikova O, Spurdle A, Tavtigian SV., Hum. Mutat. 29(11), 2008
PMID: 18951446
Discerning the ancestry of European Americans in genetic association studies.
Price AL, Butler J, Patterson N, Capelli C, Pascali VL, Scarnicci F, Ruiz-Linares A, Groop L, Saetta AA, Korkolopoulou P, Seligsohn U, Waliszewska A, Schirmer C, Ardlie K, Ramos A, Nemesh J, Arbeitman L, Goldstein DB, Reich D, Hirschhorn JN., PLoS Genet. 4(1), 2007
PMID: 18208327
Human Variome Project: an international collaboration to catalogue human genetic variation.
Ring HZ, Kwok PY, Cotton RG., Pharmacogenomics 7(7), 2006
PMID: 17054407
New perspectives for the elucidation of genetic disorders.
Ropers HH., Am. J. Hum. Genet. 81(2), 2007
PMID: 17668371
Newborn screening: experiences in the Middle East and North Africa.
Saadallah AA, Rashed MS., J. Inherit. Metab. Dis. 30(4), 2007
PMID: 17701444
Effects of traditional and western environments on prevalence of type 2 diabetes in Pima Indians in Mexico and the U.S.
Schulz LO, Bennett PH, Ravussin E, Kidd JR, Kidd KK, Esparza J, Valencia ME., Diabetes Care 29(8), 2006
PMID: 16873794
Genomic medicine and developing countries: creating a room of their own.
Seguin B, Hardy BJ, Singer PA, Daar AS., Nat. Rev. Genet. 9(6), 2008
PMID: 18487990
dbSNP: the NCBI database of genetic variation.
Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K., Nucleic Acids Res. 29(1), 2001
PMID: 11125122
Harnessing genomics and biotechnology to improve global health equity.
Singer PA, Daar AS., Science 294(5540), 2001
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1000 Genomes project.
Siva N., Nat. Biotechnol. 26(3), 2008
PMID: 18327223
Prediction and assessment of splicing alterations: implications for clinical testing.
Spurdle AB, Couch FJ, Hogervorst FB, Radice P, Sinilnikova OM; IARC Unclassified Genetic Variants Working Group, Boffetta P, Couch F, de Wind N, Easton D, Eccles D, Foulkes W, Genuardi M, Goldgar D, Greenblatt M, Hofstra R, Hogervorst F, Hoogerbrugge N, Plon S, Radice P, Rasmussen L, Sinilnikova O, Spurdle A, Tavtigian SV., Hum. Mutat. 29(11), 2008
PMID: 18951448
Human Gene Mutation Database: towards a comprehensive central mutation database.
Stenson PD, Ball E, Howells K, Phillips A, Mort M, Cooper DN., J. Med. Genet. 45(2), 2008
PMID: 18245393
Sharing genetic test results in Lynch syndrome: communication with close and distant relatives.
Stoffel EM, Ford B, Mercado RC, Punglia D, Kohlmann W, Conrad P, Blanco A, Shannon KM, Powell M, Gruber SB, Terdiman J, Chung DC, Syngal S., Clin. Gastroenterol. Hepatol. 6(3), 2008
PMID: 18258490
In silico analysis of missense substitutions using sequence-alignment based methods.
Tavtigian SV, Greenblatt MS, Lesueur F, Byrnes GB; IARC Unclassified Genetic Variants Working Group, Boffetta P, Couch F, de Wind N, Easton D, Eccles D, Foulkes W, Genuardi M, Goldgar D, Greenblatt M, Hofstra R, Hogervorst F, Hoogerbrugge N, Plon S, Radice P, Rasmussen L, Sinilnikova O, Spurdle A, Tavtigian SV., Hum. Mutat. 29(11), 2008
PMID: 18951440
Standards for reporting bioscience data: a forward look.
Taylor CF., Drug Discov. Today 12(13-14), 2007
PMID: 17631246
Promoting coherent minimum reporting guidelines for biological and biomedical investigations: the MIBBI project.
Taylor CF, Field D, Sansone SA, Aerts J, Apweiler R, Ashburner M, Ball CA, Binz PA, Bogue M, Booth T, Brazma A, Brinkman RR, Michael Clark A, Deutsch EW, Fiehn O, Fostel J, Ghazal P, Gibson F, Gray T, Grimes G, Hancock JM, Hardy NW, Hermjakob H, Julian RK Jr, Kane M, Kettner C, Kinsinger C, Kolker E, Kuiper M, Le Novere N, Leebens-Mack J, Lewis SE, Lord P, Mallon AM, Marthandan N, Masuya H, McNally R, Mehrle A, Morrison N, Orchard S, Quackenbush J, Reecy JM, Robertson DG, Rocca-Serra P, Rodriguez H, Rosenfelder H, Santoyo-Lopez J, Scheuermann RH, Schober D, Smith B, Snape J, Stoeckert CJ Jr, Tipton K, Sterk P, Untergasser A, Vandesompele J, Wiemann S., Nat. Biotechnol. 26(8), 2008
PMID: 18688244
Using genetic variation to study human disease.
Taylor JG, Choi EH, Foster CB, Chanock SJ., Trends Mol Med 7(11), 2001
PMID: 11689336
Grand challenges in global health: community engagement in research in developing countries.
Tindana PO, Singh JA, Tracy CS, Upshur RE, Daar AS, Singer PA, Frohlich J, Lavery JV., PLoS Med. 4(9), 2007
PMID: 17850178
Convergent adaptation of human lactase persistence in Africa and Europe.
Tishkoff SA, Reed FA, Ranciaro A, Voight BF, Babbitt CC, Silverman JS, Powell K, Mortensen HM, Hirbo JB, Osman M, Ibrahim M, Omar SA, Lema G, Nyambo TB, Ghori J, Bumpstead S, Pritchard JK, Wray GA, Deloukas P., Nat. Genet. 39(1), 2006
PMID: 17159977
RAMEDIS: the rare metabolic diseases database.
Topel T, Hofestadt R, Scheible D, Trefz F., Appl. Bioinformatics 5(2), 2006
PMID: 16722776
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.
van Baal S, Kaimakis P, Phommarinh M, Koumbi D, Cuppens H, Riccardino F, Macek M Jr, Scriver CR, Patrinos GP., Nucleic Acids Res. 35(Database issue), 2006
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The sequence of the human genome.
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