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1دورية أكاديميةGA4GH: International policies and standards for data sharing across genomic research and healthcare.
المؤلفون: Rehm, HL, Page, AJH, Smith, L, Adams, JB, Alterovitz, G, Babb, LJ, Barkley, MP, Baudis, M, Beauvais, MJS, Beck, T, Beckmann, JS, Beltran, S, Bernick, D, Bernier, A, Bonfield, JK, Boughtwood, TF, Bourque, G, Bowers, SR, Brookes, AJ, Brudno, M, Brush, MH, Bujold, D, Burdett, T, Buske, OJ, Cabili, MN, Cameron, DL, Carroll, RJ, Casas-Silva, E, Chakravarty, D, Chaudhari, BP, Chen, SH, Cherry, JM, Chung, J, Cline, M, Clissold, HL, Cook-Deegan, RM, Courtot, M, Cunningham, F, Cupak, M, Davies, RM, Denisko, D, Doerr, MJ, Dolman, LI, Dove, ES, Dursi, LJ, Dyke, SOM, Eddy, JA, Eilbeck, K, Ellrott, KP, Fairley, S, Fakhro, KA, Firth, HV, Fitzsimons, MS, Fiume, M, Flicek, P, Fore, IM, Freeberg, MA, Freimuth, RR, Fromont, LA, Fuerth, J, Gaff, CL, Gan, W, Ghanaim, EM, Glazer, D, Green, RC, Griffith, M, Griffith, OL, Grossman, RL, Groza, T, Auvil, JMG, Guigó, R, Gupta, D, Haendel, MA, Hamosh, A, Hansen, DP, Hart, RK, Hartley, DM, Haussler, D, Hendricks-Sturrup, RM, Ho, CWL, Hobb, AE, Hoffman, MM, Hofmann, OM, Holub, P, Hsu, JS, Hubaux, J-P, Hunt, SE, Husami, A, Jacobsen, JO, Jamuar, SS, Janes, EL, Jeanson, F, Jené, A, Johns, AL, Joly, Y, Jones, SJM, Kanitz, A, Kato, K, Keane, TM, Kekesi-Lafrance, K, Kelleher, J, Kerry, G, Khor, S-S, Knoppers, BM, Konopko, MA, Kosaki, K, Kuba, M, Lawson, J, Leinonen, R, Li, S, Lin, MF, Linden, M, Liu, X, Udara Liyanage, I, Lopez, J, Lucassen, AM, Lukowski, M, Mann, AL, Marshall, J, Mattioni, M, Metke-Jimenez, A, Middleton, A, Milne, RJ, Molnár-Gábor, F, Mulder, N, Munoz-Torres, MC, Nag, R, Nakagawa, H, Nasir, J, Navarro, A, Nelson, TH, Niewielska, A, Nisselle, A, Niu, J, Nyrönen, TH, O'Connor, BD, Oesterle, S, Ogishima, S, Wang, VO, Paglione, LAD, Palumbo, E, Parkinson, HE, Philippakis, AA, Pizarro, AD, Prlic, A, Rambla, J, Rendon, A, Rider, RA, Robinson, PN, Rodarmer, KW, Rodriguez, LL, Rubin, AF, Rueda, M, Rushton, GA, Ryan, RS, Saunders, GI, Schuilenburg, H, Schwede, T, Scollen, S, Senf, A, Sheffield, NC, Skantharajah, N, Smith, AV, Sofia, HJ, Spalding, D, Spurdle, AB, Stark, Z, Stein, LD, Suematsu, M, Tan, P, Tedds, JA, Thomson, AA, Thorogood, A, Tickle, TL, Tokunaga, K, Törnroos, J, Torrents, D, Upchurch, S, Valencia, A, Guimera, RV, Vamathevan, J, Varma, S, Vears, DF, Viner, C, Voisin, C, Wagner, AH, Wallace, SE, Walsh, BP, Williams, MS, Winkler, EC, Wold, BJ, Wood, GM, Woolley, JP, Yamasaki, C, Yates, AD, Yung, CK, Zass, LJ, Zaytseva, K, Zhang, J, Goodhand, P, North, K, Birney, E
العلاقة: pii: 100029; Rehm, H. L., Page, A. J. H., Smith, L., Adams, J. B., Alterovitz, G., Babb, L. J., Barkley, M. P., Baudis, M., Beauvais, M. J. S., Beck, T., Beckmann, J. S., Beltran, S., Bernick, D., Bernier, A., Bonfield, J. K., Boughtwood, T. F., Bourque, G., Bowers, S. R., Brookes, A. J. ,. Birney, E. (2021). GA4GH: International policies and standards for data sharing across genomic research and healthcare. Cell Genom, 1 (2), pp.100029-. https://doi.org/10.1016/j.xgen.2021.100029Test.; http://hdl.handle.net/11343/305207Test
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2دورية أكاديمية
المؤلفون: Wang, M, Callenberg, KM, Dalgleish, R, Fedtsov, A, Fox, NK, Freeman, PJ, Jacobs, KB, Kaleta, P, McMurry, AJ, Prlić, A, Rajaraman, V, Hart, RK
مصطلحات موضوعية: HGVS, clinvar, sequence variant, variant representation
العلاقة: https://www.ncbi.nlm.nih.gov/pubmed/30129167Test; Human Mutation, 2018, 39(12), pp. 1803-1813; http://hdl.handle.net/2381/44811Test
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3دورية أكاديمية
المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM
المصدر: Genome biology. 15(3):R53
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: den Dunnen, JT, Dalgleish, R, Maglott, DR, Hart, RK, Greenblatt, MS, McGowan-Jordan, J, Roux, A-F, Smith, T, Antonarakis, SE, Taschner, PEM
العلاقة: den Dunnen, J. T., Dalgleish, R., Maglott, D. R., Hart, R. K., Greenblatt, M. S., McGowan-Jordan, J., Roux, A. -F., Smith, T., Antonarakis, S. E. & Taschner, P. E. M. (2016). HGVS Recommendations for the Description of Sequence Variants: 2016 Update. HUMAN MUTATION, 37 (6), pp.564-569. https://doi.org/10.1002/humu.22981Test.; http://hdl.handle.net/11343/291098Test
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5دورية
المؤلفون: Hart, RK, Anderson, DM
المصدر: Journal of Forensic Sciences; July 1986, Vol. 31 Issue: 3 p1095-1101, 7p