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المصدر: Nature. 625(7993):92-100

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:154746474Test

المؤلفون: Whiffin, N, Armean, IM, Kleinman, A, Marshall, JL, Minikel, EV, Goodrich, JK, Quaife, NM, Cole, JB, Wang, QB, Karczewski, KJ, Cummings, BB, Francioli, L, Laricchia, K, Guan, AN, Alipanahi, B, Morrison, P, Baptista, MAS, Merchant, KM, Banks, E, Bergelson, L, Cibulskis, K, Collins, RL, Connolly, KM, Covarrubias, M, Cummings, B, Daly, MJ, Donnelly, S, Farjoun, Y, Ferriera, S, Gabriel, S, Gauthier, LD, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Laricchia, KM, Llanwarne, C, Munshi, R, Neale, BM, Novod, S, O'Donnell-Luria, AH, Petrillo, N, Poterba, T, Roazen, D, Ruano-Rubio, V, Saltzman, A, Samocha, KE, Schleicher, M, Seed, C, Solomonson, M, Soto, J, Tiao, GC, Tibbetts, K, Tolonen, C, Vittal, C, Wade, G, Wang, AR, Watts, NA, Weisburd, B, Aguilar-Salinas, CA, Ahmad, T, Albert, CM, Ardissino, D, Atzmon, G, Barnard, J, Beaugerie, L, Benjamin, EJ, Boehnke, M, Bonnycastle, LL, Bottinger, EP, Bowden, DW, Bown, MJ, Chambers, JC, Chan, JAC, Chasman, D, Cho, J, Chung, MAK, Cohen, B, Correa, A, Dabelea, D, Darbar, D, Duggirala, R, Dupuis, J, Ellinor, PT, Elosua, R, Erdmann, J, Farkkila, M, Florez, J, Franke, A, Getz, G, Glaser, B, Glatt, SJ, Goldstein, D, Gonzalez, C, Groop, L, Haiman, C, Hanis, C, Harms, M, Hiltunen, M, Holi, MM, Hultman, CM, Kallela, M, Kaprio, J, Kathiresan, S, Kim, BJ, Kim, YJ, Kirov, G, Kooner, J, Koskinen, S, Krumholz, HM, Kugathasan, S, Kwak, SH, Laakso, M, Lehtimaki, T, Loos, RJF, Lubitz, SA, Ma, RCW, MacArthur, DG, Marrugat, J, Mattila, KM, McCarroll, S, McCarthy, MI, McGovern, D, McPherson, R, Meigs, JB, Melander, O, Metspalu, A, Nilsson, PM, O'Donovan, MC, Ongur, D, Orozco, L, Owen, MJ, Palmer, CNA, Palotie, A, Park, KS, Pato, C, Pulver, AE, Rahman, N, Remes, AM, Riou, JD, Ripatti, S, Roden, DM, Saleheen, D, Salomaa, V, Samani, NJ, Scharf, J, Schunkert, H, Shoemaker, MB, Sklar, P, Soininen, H, Sokol, H, Spector, T, Sullivan, PF, Suvisaari, J, Tai, ES, Teo, YY, Tiinamaija, T, Tsuang, M, Turner, D, Tusie-Luna, T, Vartiainen, E, Vawter, MP, Ware, JS, Watkins, H, Weersma, RK, Wessman, M, Wilson, JG, Xavier, RJ, Havulinna, AS, Iliadou, B, Lee, JJ, Nadkarni, GN, Whiteman, C, Agee, M, Auton, A, Bell, RK, Bryc, K, Elson, SL, Fontanillas, P, Furlotte, NA, Hicks, B, Hinds, DA, Huber, KE, Jewett, EM, Jiang, YN, Lin, KH, Litterman, NK, McIntyre, MH, McManus, KF, Mountain, JL, Noblin, ES, Northover, CAM, Pitts, SJ, Poznik, GD, Sathirapongsasuti, JF, Shelton, JF, Shringarpure, S, Tian, C, Tung, JYY, Vacic, V, Wang, X, Wilson, CH, Daly, M, Esko, T, Hultman, C, Milani, L, Pato, M, Alfoldi, J, Cannon, P

المصدر: Nature medicine. 27(2):355-355

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:145703150Test

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Foster, CS, Ghori, M, Gill, P, Gnanapragasam, VJ, Gundem, G, Hamdy, FC, Hawkins, S, Hazell, S, Howat, W, Isaacs, WB, Karaszi, K, Kay, JD, Khoo, V, Kote-Jarai, Z, Kremeyer, B, Kumar, P, Lambert, A, Leongamornlert, DA, Livni, N, Lu, YJ, Luxton, HJ, Marsden, L, Massie, CE, Matthews, L, Mayer, E, McDermott, U, Merson, S, Neal, DE, Ng, A, Nicol, D, Ogden, C, Rowe, EW, Shah, NC, Thomas, S, Thompson, A, Verrill, C, Visakorpi, T, Warren, AY, Whitaker, HC, Zhang, H, van As, N, Eeles, RA, Abeshouse, A, Agrawal, N, Akbani, R, Al Ahmadie, H, Albert, M, Aldape, K, Ally, A, Appelbaum, EL, Armenia, J, Asa, S, Auman, JT, Balasundaram, M, Balu, S, Barnholtz-Sloan, J, Bathe, OF, Baylin, SB, Benz, C, Berchuck, A, Berrios, M, Bigner, D, Birrer, M, Bodenheimer, T, Boice, L, Bootwalla, MS, Bosenberg, M, Bowlby, R, Boyd, J, Broaddus, RR, Brock, M, Brooks, D, Bullman, S, Caesar-Johnson, SJ, Carey, TE, Carlsen, R, Cerfolio, R, Chandan, VS, Chen, HW, Cherniack, AD, Chien, J, Cho, J, Chuah, E, Cibulskis, C, 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Mungall, K, Mutch, D, Muzny, DM, Myers, J, Newton, Y, Noble, MS, O'Donnell, P, O'Neill, BP, Ochoa, A, Parker, JS, Pass, H, Pastore, A, Pennell, NA, Perou, CM, Petrelli, N, Potapova, O, Rader, JS, Ramalingam, S, Rathmell, WK, Reuter, V, Reynolds, SM, Ringel, M, Roach, J, Roberts, LR, Robertson, AG, Sadeghi, S, Saller, C, Sanchez-Vega, F, Schadendorf, D, Schein, JE, Schmidt, HK, Schultz, N, Seethala, R, Senbabaoglu, Y, Shelton, T, Shi, Y, Shih, J, Shmulevich, I, Shriver, C, Signoretti, S, Simons, J, Singer, S, Sipahimalani, P, Skelly, TJ, McCune, KS, Socci, ND, Soloway, MG, Sood, AK, Tam, A, Tan, D, Tarnuzzer, R, Thiessen, N, Thompson, RH, Thorne, LB, Tsao, M, Umbricht, C, Van Den Berg, DJ, Van Meir, EG, Veluvolu, U, Voet, D, Wang, L, Weinberger, P, Weisenberger, DJ, Wigle, D, Wilkerson, MD, Wilson, RK, Winterhoff, B, Wiznerowicz, M, Wong, T, Wong, W, Xi, L, Yau, C

المصدر: Nature. 578(7793):82

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:143672104Test

المؤلفون: Karczewski, KJ, Francioli, LC, Tiao, G, Cummings, BB, Alfoldi, J, Wang, Q, Collins, RL, Laricchia, KM, Ganna, A, Birnbaum, DP, Gauthier, LD, Brand, H, Solomonson, M, Watts, NA, Rhodes, D, Singer-Berk, M, England, EM, Seaby, EG, Kosmicki, JA, Walters, RK, Tashman, K, Farjoun, Y, Banks, E, Poterba, T, Wang, A, Seed, C, Whiffin, N, Chong, JX, Samocha, KE, Pierce-Hoffman, E, Zappala, Z, O'Donnell-Luria, AH, Minikel, EV, Weisburd, B, Lek, M, Ware, JS, Vittal, C, Armean, IM, Bergelson, L, Cibulskis, K, Connolly, KM, Covarrubias, M, Donnelly, S, Ferriera, S, Gabriel, S, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Llanwarne, C, Munshi, R, Novod, S, Petrillo, N, Roazen, D, Ruano-Rubio, V, Saltzman, A, Schleicher, M, Soto, J, Tibbetts, K, Tolonen, C, Wade, G, Talkowski, ME, Aggregation, G, Neale, BM, Daly, MJ, MacArthur, DG

المصدر: E53

مصطلحات موضوعية: Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, Genome Aggregation Database Consortium, General Science & Technology

العلاقة: Nature; http://hdl.handle.net/10044/1/89828Test

الإتاحة: https://doi.org/10.1038/s41586-020-03174-8Test
http://hdl.handle.net/10044/1/89828Test

المؤلفون: Bell, D, Berchuck, A, Birrer, M, Chien, J, Cramer, DW, Dao, F, Dhir, R, DiSaia, P, Gabra, H, Glenn, P, Godwin, AK, Gross, J, Hartmann, L, Huang, M, Huntsman, DG, Iacocca, M, Imielinski, M, Kalloger, S, Karlan, BY, Levine, DA, Mills, GB, Morrison, C, Mutch, D, Olvera, N, Orsulic, S, Park, K, Petrelli, N, Rabeno, B, Rader, JS, Sikic, BI, Smith-McCune, K, Sood, AK, Bowtell, D, Penny, R, Testa, JR, Chang, K, Creighton, CJ, Dinh, HH, Drummond, JA, Fowler, G, Gunaratne, P, Hawes, AC, Kovar, CL, Lewis, LR, Morgan, MB, Newsham, IF, Santibanez, J, Reid, JG, Trevino, LR, Wu, Y-Q, Wang, M, Muzny, DM, Wheeler, DA, Gibbs, RA, Getz, G, Lawrence, MS, Cibulskis, K, Sivachenko, AY, Sougnez, C, Voet, D, Wilkinson, J, Bloom, T, Ardlie, K, Fennell, T, Baldwin, J, Nichol, R, Fisher, S, Gabriel, S, Lander, ES, Ding, L, Fulton, RS, Koboldt, DC, McLellan, MD, Wylie, T, Walker, J, O’Laughlin, M, Dooling, DJ, Fulton, L, Abbott, R, Dees, ND, Zhang, Q, Kandoth, C, Wendl, M, Schierding, W, Shen, D, Harris, CC, Schmidt, H, Kalicki, J, Delehaunty, KD, Fronick, CC, Demeter, R, Cook, L, Wallis, JW, Lin, L, Magrini, VJ, Hodges, JS, Eldred, JM, Smith, SM, Pohl, CS, Vandin, F

المصدر: Nature. 474(7353)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Oncology and Carcinogenesis, Biotechnology, Rare Diseases, Human Genome, Ovarian Cancer, Cancer, Aged, Carcinoma, DNA Methylation, Female, Gene Dosage, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Genomics, Humans, MicroRNAs, Middle Aged, Mutation, Ovarian Neoplasms, RNA, Messenger, Cancer Genome Atlas Research Network, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/44b1h9tbTest

المؤلفون: Wang, Q., Pierce-Hoffman, E., Cummings, B.B., Alföldi, J., Francioli, L.C., Gauthier, L.D., Hill, A.J., O’Donnell-Luria, A.H., Armean, I.M., Banks, E., Bergelson, L., Cibulskis, K., Collins, R.L., Connolly, K.M., Covarrubias, M., Daly, M.J., Donnelly, S., Farjoun, Y., Ferriera, S., Gabriel, S., Gentry, J., Gupta, N., Jeandet, T., Kaplan, D., Laricchia, K.M., Llanwarne, C., Minikel, E.V., Munshi, R., Neale, B.M., Novod, S., Petrillo, N., Poterba, T., Roazen, D., Ruano-Rubio, V., Saltzman, A., Samocha, K.E., Schleicher, M., Seed, C., Solomonson, M., Soto, J., Tiao, G., Tibbetts, K., Tolonen, C., Vittal, C., Wade, G., Wang, A., Ware, J.S., Watts, N.A., Weisburd, B., Whiffin, N., Aguilar Salinas, C.A., Ahmad, T., Albert, C.M., Ardissino, D., Atzmon, G., Barnard, J., Beaugerie, L., Benjamin, E.J., Boehnke, M., Bonnycastle, L.L., Bottinger, E.P., Bowden, D.W., Bown, M.J., Chambers, J.C., Chan, J.C., Chasman, D., Cho, J., Chung, M.K., Cohen, B., Correa, A., Dabelea, D., Darbar, D., Duggirala, R., Dupuis, J., Ellinor, P.T., Elosua, R., Erdmann, J., Esko, T., Färkkilä, M., Florez, J., Franke, A., Getz, G., Glaser, B., Glatt, S.J., Goldstein, D., Gonzalez, C., Groop, L., Haiman, C., Hanis, C., Harms, M., Hiltunen, M., Holi, M.M., Hultman, C.M., Kallela, M., Kaprio, J., Kathiresan, S., Kim, B.-J., Kim, Y.J., Kirov, G., Kooner, J., Koskinen, S., Krumholz, H.M., Kugathasan, S., Kwak, S.H., Laakso, M., Lehtimäki, T., Loos, R.J.F., Lubitz, S.A., Ma, R.C.W., Marrugat, J., Mattila, K.M., McCarroll, S., McCarthy, M.I., McGovern, D., McPherson, R., Meigs, J.B., Melander, O., Metspalu, A., Nilsson, P.M., O’Donovan, M.C., Ongur, D., Orozco, L., Owen, M.J., Palmer, C.N.A., Palotie, A., Park, K.S., Pato, C., Pulver, A.E., Rahman, N., Remes, A.M., Rioux, J.D., Ripatti, S., Roden, D.M., Saleheen, D., Salomaa, V., Samani, N.J., Scharf, J., Schunkert, H., Shoemaker, M.B., Sklar, P., Soininen, H., Sokol, H., Spector, T., Sullivan, P.F., Suvisaari, J., Tai, E.S., Teo, Y.Y., Tiinamaija, T., Tsuang, M., Turner, D., Tusie-Luna, T., Vartiainen, E., Watkins, H., Weersma, R.K., Wessman, M., Wilson, J.G., Xavier, R.J., Karczewski, K.J., MacArthur, D.G., Genome Aggregation Database Production Team., Genome Aggregation Database Consortium.

المساهمون: DEAN'S OFFICE (SSH SCH OF PUBLIC HEALTH), DEPT OF MEDICINE

المصدر: Scopus OA2020

العلاقة: Wang, Q., Pierce-Hoffman, E., Cummings, B.B., Alföldi, J., Francioli, L.C., Gauthier, L.D., Hill, A.J., O’Donnell-Luria, A.H., Armean, I.M., Banks, E., Bergelson, L., Cibulskis, K., Collins, R.L., Connolly, K.M., Covarrubias, M., Daly, M.J., Donnelly, S., Farjoun, Y., Ferriera, S., Gabriel, S., Gentry, J., Gupta, N., Jeandet, T., Kaplan, D., Laricchia, K.M., Llanwarne, C., Minikel, E.V., Munshi, R., Neale, B.M., Novod, S., Petrillo, N., Poterba, T., Roazen, D., Ruano-Rubio, V., Saltzman, A., Samocha, K.E., Schleicher, M., Seed, C., Solomonson, M., Soto, J., Tiao, G., Tibbetts, K., Tolonen, C., Vittal, C., Wade, G., Wang, A., Ware, J.S., Watts, N.A., Weisburd, B., Whiffin, N., Aguilar Salinas, C.A., Ahmad, T., Albert, C.M., Ardissino, D., Atzmon, G., Barnard, J., Beaugerie, L., Benjamin, E.J., Boehnke, M., Bonnycastle, L.L., Bottinger, E.P., Bowden, D.W., Bown, M.J., Chambers, J.C., Chan, J.C., Chasman, D., Cho, J., Chung, M.K., Cohen, B., Correa, A., Dabelea, D., Darbar, D., Duggirala, R., Dupuis, J., Ellinor, P.T., Elosua, R., Erdmann, J., Esko, T., Färkkilä, M., Florez, J., Franke, A., Getz, G., Glaser, B., Glatt, S.J., Goldstein, D., Gonzalez, C., Groop, L., Haiman, C., Hanis, C., Harms, M., Hiltunen, M., Holi, M.M., Hultman, C.M., Kallela, M., Kaprio, J., Kathiresan, S., Kim, B.-J., Kim, Y.J., Kirov, G., Kooner, J., Koskinen, S., Krumholz, H.M., Kugathasan, S., Kwak, S.H., Laakso, M., Lehtimäki, T., Loos, R.J.F., Lubitz, S.A., Ma, R.C.W., Marrugat, J., Mattila, K.M., McCarroll, S., McCarthy, M.I., McGovern, D., McPherson, R., Meigs, J.B., Melander, O., Metspalu, A., Nilsson, P.M., O’Donovan, M.C., Ongur, D., Orozco, L., Owen, M.J., Palmer, C.N.A., Palotie, A., Park, K.S., Pato, C., Pulver, A.E., Rahman, N., Remes, A.M., Rioux, J.D., Ripatti, S., Roden, D.M., Saleheen, D., Salomaa, V., Samani, N.J., Scharf, J., Schunkert, H., Shoemaker, M.B., Sklar, P., Soininen, H., Sokol, H., Spector, T., Sullivan, P.F., Suvisaari, J., Tai, E.S., Teo, Y.Y., Tiinamaija, T., Tsuang, M., Turner, D., Tusie-Luna, T., Vartiainen, E., Watkins, H., Weersma, R.K., Wessman, M., Wilson, J.G., Xavier, R.J., Karczewski, K.J., MacArthur, D.G., Genome Aggregation Database Production Team., Genome Aggregation Database Consortium. (2020). Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nature Communications 11 (1) : 2539. ScholarBank@NUS Repository. https://doi.org/10.1038/s41467-019-12438-5Test; https://scholarbank.nus.edu.sg/handle/10635/198086Test

الإتاحة: https://doi.org/10.1038/s41467-019-12438-5Test
https://scholarbank.nus.edu.sg/handle/10635/198086Test

المؤلفون: Whiffin, N., Karczewski, K.J., Zhang, X., Chothani, S., Smith, M.J., Evans, D.G., Roberts, A.M., Quaife, N.M., Schafer, S., Rackham, O., Alföldi, J., Hultman, C.M., Wang, A., Wang, Q., Watts, N.A., Weisburd, B., Aguilar Salinas, C.A., Ahmad, T., Albert, C.M., Ardissino, D., Atzmon, G., Francioli, L.C., Barnard, J., Kallela, M., Beaugerie, L., Benjamin, E.J., Boehnke, M., Bonnycastle, L.L., Bottinger, E.P., Bowden, D.W., Bown, M.J., Chambers, J.C., McCarroll, S., Chan, J.C., Chasman, D., Kaprio, J., Cho, J., Chung, M.K., Cohen, B., Correa, A., Dabelea, D., Daly, M.J., Darbar, D., McCarthy, M.I., Duggirala, R., Dupuis, J., Ellinor, P.T., Kathiresan, S., Elosua, R., Erdmann, J., Esko, T., Färkkilä, M., Florez, J., Programs in Metabolism and Medical and Population Genetics, Broad Institute., McGovern, D., Department of Medicine, Harvard Medical School, Boston, MA 02115, United States., Franke, A., Getz, G., Glaser, B., Kim, B.-J., Glatt, S.J., Goldstein, D., Gonzalez, C., Groop, L., Haiman, C., McPherson, R., Hanis, C., Harms, M., Hiltunen, M., Kim, Y.J., Kirov, G., Kooner, J., Koskinen, S., O’Donnell-Luria, A.H., Krumholz, H.M., Kugathasan, S., Meigs, J.B., Kwak, S.H., Laakso, M., Lehtimäki, T., Loos, R.J.F., Lubitz, S.A., Ma, R.C.W., Marrugat, J., Mattila, K.M., Melander, O., Metspalu, A., Neale, B.M., Nilsson, P.M., Llanwarne, C., O’Donovan, M.C., Armean, I.M., Ongur, D., Orozco, L., Owen, M.J., Palmer, C.N.A., Palotie, A., Park, K.S., Pato, C., Pulver, A.E., Minikel, E.V., Rahman, N., Remes, A.M., Banks, E., Rioux, J.D., Ripatti, S., Roden, D.M., Saleheen, D., Salomaa, V., Samani, N.J., Scharf, J., Munshi, R., Schunkert, H., Shoemaker, M.B., Sklar, P., Bergelson, L., Soininen, H., Sokol, H., Spector, T., Sullivan, P.F., Suvisaari, J., Tai, E.S., Teo, Y.Y., Tiinamaija, T., Tsuang, M., Turner, D., Cibulskis, K., Tusie-Luna, T., Vartiainen, E., Watkins, H., Weersma, R.K., Wessman, M., Novod, S., Wilson, J.G., Xavier, R.J., Cook, S.A., Collins, R.L., Connolly, K.M., Covarrubias, M., Cummings, B., Donnelly, S., Farjoun, Y., Petrillo, N., Ferriera, S., Gabriel, S., Gauthier, L.D., Gentry, J., Gupta, N., Jeandet, T., Kaplan, D., Laricchia, K.M., Poterba, T., Roazen, D., Ruano-Rubio, V., Saltzman, A., Holi, M.M., Samocha, K.E., Schleicher, M., Seed, C., Solomonson, M., Soto, J., Tiao, G., Tibbetts, K., Tolonen, C., Vittal, C., Wade, G.

المساهمون: DEAN'S OFFICE (SSH SCH OF PUBLIC HEALTH), DEPT OF MEDICINE

المصدر: Scopus OA2020

العلاقة: Whiffin, N., Karczewski, K.J., Zhang, X., Chothani, S., Smith, M.J., Evans, D.G., Roberts, A.M., Quaife, N.M., Schafer, S., Rackham, O., Alföldi, J., Hultman, C.M., Wang, A., Wang, Q., Watts, N.A., Weisburd, B., Aguilar Salinas, C.A., Ahmad, T., Albert, C.M., Ardissino, D., Atzmon, G., Francioli, L.C., Barnard, J., Kallela, M., Beaugerie, L., Benjamin, E.J., Boehnke, M., Bonnycastle, L.L., Bottinger, E.P., Bowden, D.W., Bown, M.J., Chambers, J.C., McCarroll, S., Chan, J.C., Chasman, D., Kaprio, J., Cho, J., Chung, M.K., Cohen, B., Correa, A., Dabelea, D., Daly, M.J., Darbar, D., McCarthy, M.I., Duggirala, R., Dupuis, J., Ellinor, P.T., Kathiresan, S., Elosua, R., Erdmann, J., Esko, T., Färkkilä, M., Florez, J., Programs in Metabolism and Medical and Population Genetics, Broad Institute., McGovern, D., Department of Medicine, Harvard Medical School, Boston, MA 02115, United States., Franke, A., Getz, G., Glaser, B., Kim, B.-J., Glatt, S.J., Goldstein, D., Gonzalez, C., Groop, L., Haiman, C., McPherson, R., Hanis, C., Harms, M., Hiltunen, M., Kim, Y.J., Kirov, G., Kooner, J., Koskinen, S., O’Donnell-Luria, A.H., Krumholz, H.M., Kugathasan, S., Meigs, J.B., Kwak, S.H., Laakso, M., Lehtimäki, T., Loos, R.J.F., Lubitz, S.A., Ma, R.C.W., Marrugat, J., Mattila, K.M., Melander, O., Metspalu, A., Neale, B.M., Nilsson, P.M., Llanwarne, C., O’Donovan, M.C., Armean, I.M., Ongur, D., Orozco, L., Owen, M.J., Palmer, C.N.A., Palotie, A., Park, K.S., Pato, C., Pulver, A.E., Minikel, E.V., Rahman, N., Remes, A.M., Banks, E., Rioux, J.D., Ripatti, S., Roden, D.M., Saleheen, D., Salomaa, V., Samani, N.J., Scharf, J., Munshi, R., Schunkert, H., Shoemaker, M.B., Sklar, P., Bergelson, L., Soininen, H., Sokol, H., Spector, T., Sullivan, P.F., Suvisaari, J., Tai, E.S., Neale, B.M., Teo, Y.Y., Tiinamaija, T., Tsuang, M., Turner, D., Cibulskis, K., Tusie-Luna, T., Vartiainen, E., Watkins, H., Weersma, R.K., Wessman, M., Novod, S., Wilson, J.G., Xavier, R.J., Cook, S.A., Collins, R.L., Connolly, K.M., Covarrubias, M., Cummings, B., Daly, M.J., Donnelly, S., Farjoun, Y., Petrillo, N., Ferriera, S., Gabriel, S., Gauthier, L.D., Gentry, J., Gupta, N., Jeandet, T., Kaplan, D., Laricchia, K.M., Poterba, T., Roazen, D., Ruano-Rubio, V., Saltzman, A., Holi, M.M., Samocha, K.E., Schleicher, M., Seed, C., Solomonson, M., Soto, J., Tiao, G., Tibbetts, K., Tolonen, C., Vittal, C., Wade, G. (2020). Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals. Nature Communications 11 (1) : 2523. ScholarBank@NUS Repository. https://doi.org/10.1038/s41467-019-10717-9Test; https://scholarbank.nus.edu.sg/handle/10635/198155Test

الإتاحة: https://doi.org/10.1038/s41467-019-10717-9Test
https://scholarbank.nus.edu.sg/handle/10635/198155Test

المؤلفون: Gudmundsson, S, Karczewski, KJ, Francioli, LC, Tiao, G, Cummings, BB, Alfoldi, J, Wang, Q, Collins, RL, Laricchia, KM, Ganna, A, Birnbaum, DP, Gauthier, LD, Brand, H, Solomonson, M, Watts, NA, Rhodes, D, Singer-Berk, M, England, EM, Seaby, EG, Kosmicki, JA, Walters, RK, Tashman, K, Farjoun, Y, Banks, E, Poterba, T, Wang, A, Seed, C, Whiffin, N, Chong, JX, Samocha, KE, Pierce-Hoffman, E, Zappala, Z, O'Donnell-Luria, AH, Minikel, EV, Weisburd, B, Lek, M, Ware, JS, Vittal, C, Armean, IM, Bergelson, L, Cibulskis, K, Connolly, KM, Covarrubias, M, Donnelly, S, Ferriera, S, Gabriel, S, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Llanwarne, C, Munshi, R, Novod, S, Petrillo, N, Roazen, D, Ruano-Rubio, V, Saltzman, A, Schleicher, M, Soto, J, Tibbetts, K, Tolonen, C, Wade, G, Talkowski, ME, Neale, BM, Daly, MJ, MacArthur, DG

المصدر: E4 ; E3

مصطلحات موضوعية: Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, OF-FUNCTION VARIANTS, Genome Aggregation Database Consortium, General Science & Technology

العلاقة: Nature; http://hdl.handle.net/10044/1/95288Test

الإتاحة: https://doi.org/10.1038/s41586-021-03758-yTest
http://hdl.handle.net/10044/1/95288Test

المؤلفون: Karczewski, KJ, Francioli, LC, Tiao, G, Cummings, BB, Alföldi, J, Wang, Q, Collins, RL, Laricchia, KM, Ganna, A, Birnbaum, DP, Gauthier, LD, Brand, H, Solomonson, M, Watts, NA, Rhodes, D, Singer-Berk, M, England, EM, Seaby, EG, Kosmicki, JA, Walters, RK, Tashman, K, Farjoun, Y, Banks, E, Poterba, T, Wang, A, Seed, C, Whiffin, N, Chong, JX, Samocha, KE, Pierce-Hoffman, E, Zappala, Z, O’Donnell-Luria, AH, Vallabh Minikel, E, Weisburd, B, Lek, M, Ware, JS, Vittal, C, Armean, IM, Bergelson, L, Cibulskis, K, Connolly, JM, Covarrubias, M, Donnelly, S, Ferriera, S, Gabriel, S, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Llanwarne, C, Munshi, J, Novod, S, Petrillo, N, Roazen, D, Ruano-Rubio, V, Saltzman, A, Schleicher, M, Soto, J, Tibbetts, K, Tolonen, C, Wade, G, Talkowski, ME, Genome Aggregation Database (gnomAD) Consortium, Neale, BM, Daly, MJ, MacArthur, DG

المساهمون: Wellcome Trust, Rosetrees Trust

المصدر: 443 ; 434

مصطلحات موضوعية: Science & Technology, Multidisciplinary Sciences, Science & Technology - Other Topics, DE-NOVO MUTATIONS, VARIANTS, BURDEN, MODEL, Adult, Brain, Cardiovascular Diseases, Cohort Studies, Databases, Genetic, Exome, Female, Genes, Essential, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, Genome-Wide Association Study, Humans, Loss of Function Mutation, Male, Mutation Rate, Proprotein Convertase 9, RNA, Messenger, Reproducibility of Results

العلاقة: Nature; http://hdl.handle.net/10044/1/79060Test; 107469/Z/15/Z; M735

الإتاحة: https://doi.org/10.1038/s41586-020-2308-7Test
http://hdl.handle.net/10044/1/79060Test

المؤلفون: Cortés-Ciriano, I., Lee, J. J-K., Xi, R., Jain, D., Jung, Y. L., Yang, L., Gordenin, D., Klimczak, L. J., Zhang, C-Z., Pellman, D. S., Akdemir, K. C., Alvarez, E. G., Baez-Ortega, A., Beroukhim, R., Boutros, P. C., Bowtell, D. D. L., Brors, B., Burns, K. H., Campbell, P. J., Chan, K., Chen, K., Dueso-Barroso, A., Dunford, A. J., Edwards, P. A., Estivill, X., Etemadmoghadam, D., Feuerbach, L., Fink, J. L., Frenkel-Morgenstern, M., Garsed, D. W., Gerstein, M., Gordenin, D. A., Haan, D., Haber, J. E., Hess, J. M., Hutter, B., Imielinski, M., Jones, D. T. W., Ju, Y. S., Kazanov, M. D., Koh, Y., Korbel, J. O., Kumar, K., Lee, E. A., Li, Y., Lynch, A. G., Macintyre, G., Markowetz, F., Martincorena, I., Martinez-Fundichely, A., Miyano, S., Nakagawa, H., Navarro, F. C. P., Ossowski, S., Park, P. J., Pearson, J. V., Puiggròs, M., Rippe, K., Roberts, N. D., Roberts, S. A., Rodriguez-Martin, B., Schumacher, S. E., Scully, R., Shackleton, M., Sidiropoulos, N., Sieverling, L., Stewart, C., Torrents, D., Tubio, J. M. C., Villasante, I., Waddell, N., Wala, J. A., Weischenfeldt, J., Yao, X., Yoon, S-S., Zamora, J., Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S-M., Aikata, H., Akbani, R., Al-Ahmadie, H., Al-Sedairy, S. T., Al-Shahrour, F., Alawi, M., Albert, M., Aldape, K., Alexandrov, L. B., Ally, A., Alsop, K., Amary, F., Amin, S. B., Aminou, B., Ammerpohl, O., Anderson, M. J., Ang, Y., Antonello, D., Anur, P., Aparicio, S., Appelbaum, E. L., Arai, Y., Aretz, A., Arihiro, K., Ariizumi, S-I., Armenia, J., Arnould, L., Asa, S., Assenov, Y., Atwal, G., Aukema, S., Auman, J. T., Aure, M. R. R., Awadalla, P., Aymerich, M., Bader, G. D., Bailey, M. H., Bailey, P. J., Balasundaram, M., Balu, S., Bandopadhayay, P., Banks, R. E., Barbi, S., Barbour, A. P., Barenboim, J., Barnholtz-Sloan, J., Barr, H., Barrera, E., Bartlett, J., Bartolome, J., Bassi, C., Bathe, O. F., Baumhoer, D., Bavi, P., Baylin, S. B., Bazant, W., Beardsmore, D., Beck, T. A., Behjati, S., Behren, A., Niu, B., Bell, C., Beltran, S., Benz, C., Berchuck, A., Bergmann, A. K., Bergstrom, E. N., Berman, B. P., Berney, D. M., Bernhart, S. H., Berrios, M., Bersani, S., Bertl, J., Betancourt, M., Bhandari, V., Bhosle, S. G., Biankin, A. V., Bieg, M., Bigner, D., Binder, H., Birney, E., Birrer, M., Biswas, N. K., Bjerkehagen, B., Bodenheimer, T., Boice, L., Bonizzato, G., De Bono, J. S., Boot, A., Bootwalla, M. S., Borg, A., Borkhardt, A., Boroevich, K. A., Borozan, I., Borst, C., Bosenberg, M., Bosio, M., Boultwood, J., Bourque, G., Bova, G. S., Bowen, D. T., Bowlby, R., Boyault, S., Boyce, R., Boyd, J., Brazma, A., Brennan, P., Brewer, D. S., Brinkman, A. B., Bristow, R. G., Broaddus, R. R., Brock, J. E., Brock, M., Broeks, A., Brooks, A. N., Brooks, D., Brunak, S., Bruxner, T. J. C., Bruzos, A. L., Buchanan, A., Buchhalter, I., Buchholz, C., Bullman, S., Burke, H., Burkhardt, B., Busanovich, J., Bustamante, C. D., Butler, A. P., Butte, A. J., Byrne, N. J., Børresen-Dale, A-L., Caesar-Johnson, S. J., Cafferkey, A., Cahill, D., Calabrese, C., Caldas, C., Calvo, F., Camacho, N., Campo, E., Cantù, C., Cao, S., Carey, T. E., Carlevaro-Fita, J., Carlsen, R., Cataldo, I., Cazzola, M., Cebon, J., Cerfolio, R., Chadwick, D. E., Chakravarty, D., Chalmers, D., Chan, C. W. Y., Chan-Seng-Yue, M., Chandan, V. S., Chang, D. K., Chanock, S. J., Chantrill, L. A., Chateigner, A., Chatterjee, N., Chayama, K., Chen, H-W., Chen, J., Chen, Y., Chen, Z., Cherniack, A. D., Chien, J., Chiew, Y-E., Chin, S-F., Cho, J., Cho, S., Choi, J. K., Choi, W., Chomienne, C., Chong, Z., Choo, S. P., Chou, A., Christ, A. N., Christie, E. L., Chuah, E., Cibulskis, C., Cibulskis, K., Cingarlini, S., Clapham, P., Claviez, A., Cleary, S., Cloonan, N., Cmero, M., Collins, C. C., Connor, A. A., Cooke, S. L., Cooper, C. S., Cope, L., Corbo, V., Cordes, M. G., Cordner, S. M., Covington, K., Cowin, P. A., Craft, B., Craft, D., Creighton, C. J., Cun, Y., Curley, E., Cutcutache, I., Czajka, K., Czerniak, B., Dagg, R. A., Danilova, L., Davi, M. V., Davidson, N. R., Davies, H., Davis, I. J., Davis-Dusenbery, B. N., Dawson, K. J., De La Vega, F. M., De Paoli-Iseppi, R., Defreitas, T., Tos, A. P. D., Delaneau, O., Demchok, J. A., Demeulemeester, J., Demidov, G. M., Demircioğlu, D., Dennis, N. M., Denroche, R. E., Dentro, S. C., Desai, N., Deshpande, V., Deshwar, A. G., Desmedt, C., Deu-Pons, J., Dhalla, N., Dhani, N. C., Dhingra, P., Dhir, R., DiBiase, A., Diamanti, K., Ding, L., Ding, S., Dinh, H. Q., Dirix, L., Doddapaneni, H., Donmez, N., Dow, M. T., Drapkin, R., Drechsel, O., Drews, R. M., Serge, S., Dudderidge, T., Dunn, M., Dursi, L. J., Duthie, F. R., Dutton-Regester, K., Eagles, J., Easton, D. F., Edmonds, S., Edwards, S. E., Eeles, R. A., Ehinger, A., Eils, J., Eils, R., El-Naggar, A., Eldridge, M., Ellrott, K., Erkek, S., Escaramis, G., Espiritu, S. M. G., Eyfjord, J. E., Faltas, B. M., Fan, D., Fan, Y., Faquin, W. C., Farcas, C., Fassan, M., Fatima, A., Favero, F., Fayzullaev, N., Felau, I., Fereday, S., Ferguson, M. L., Ferretti, V., Field, M. A., Finocchiaro, G., Fisher, C., Fittall, M. W., Fitzgerald, A., Fitzgerald, R. C., Flanagan, A. M., Fleshner, N. E., Flicek, P., Foekens, J. A., Fong, K. M., Fonseca, N. A., Foster, C. S., Fox, N. S., Fraser, M., Frazer, S., Friedman, W., Frigola, J., Fronick, C. C., Fujimoto, A., Fujita, M., Fukayama, M., Fulton, L. A., Fulton, R. S., Furuta, M., Futreal, P. A., Füllgrabe, A., Gabriel, S. B., Gallinger, S., Gambacorti-Passerini, C., Gao, J., Gao, S., Garraway, L., Garred, Ø., Garrison, E., Gehlenborg, N., Gelpi, J. L. L., George, J., Gerhard, D. S., Gerhauser, C., Gershenwald, J. E., Gerstung, M., Getz, G., Ghori, M., Ghossein, R., Giama, N. H., Gibbs, R. A., Gibson, B., Gill, A. J., Gill, P., Giri, D. D., Glodzik, D., Gnanapragasam, V. J., Goebler, M. E., Goldman, M. J., Gomez, C., Gonzalez, S., Gonzalez-Perez, A., Gossage, J., Gotoh, K., Govindan, R., Grabau, D., Graham, J. S., Grant, R. C., Green, A. R., Green, E., Greger, L., Grehan, N., Grimaldi, S., Grimmond, S. M., Grossman, R. L., Grundhoff, A., Gundem, G., Guo, Q., Gupta, M., Gupta, S., Gut, I. G., Gut, M., Göke, J., Ha, G., Haake, A., Haas, S., Haase, K., Habermann, N., Hach, F., Haider, S., Hama, N., Hamdy, F. C., Hamilton, A., Hamilton, M. P., Han, L., Hanna, G. B., Hansmann, M., Haradhvala, N. J., Harismendy, O., Harliwong, I., Harmanci, A. O., Harrington, E., Hasegawa, T., Haussler, D., Hawkins, S., Hayami, S., Hayashi, S., Hayes, D. N., Hayes, S. J., Hayward, N. K., Hazell, S., He, Y., Heath, A. P., Heath, S. C., Hedley, D., Hegde, A. M., Heiman, D. I., Heinold, M. C., Heins, Z., Heisler, L. E., Hellstrom-Lindberg, E., Helmy, M., Heo, S. G., Hepperla, A. J., Heredia-Genestar, J. M., Herrmann, C., Hersey, P., Hilmarsdottir, H., Hinton, J., Hirano, S., Hiraoka, N., Hoadley, K. A., Hobolth, A., Hodzic, E., Hoell, J. I., Hoffmann, S., Hofmann, O., Holbrook, A., Holik, A. Z., Hollingsworth, M. A., Holmes, O., Holt, R. A., Hong, C., Hong, E. P., Hong, J. H., Hooijer, G. K., Hornshøj, H., Hosoda, F., Hou, Y., Hovestadt, V., Howat, W., Hoyle, A. P., Hruban, R. H., Hu, J., Hu, T., Hua, X., Huang, K-L., Huang, M., Huang, M. N., Huang, V., Huang, Y., Huber, W., Hudson, T. J., Hummel, M., Hung, J. A., Huntsman, D., Hupp, T. R., Huse, J., Huska, M. R., Hutter, C. M., Hübschmann, D., Iacobuzio-Donahue, C. A., Imbusch, C. D., Imoto, S., Isaacs, W. B., Isaev, K., Ishikawa, S., Iskar, M., Islam, S. M. A., Ittmann, M., Ivkovic, S., Izarzugaza, J. M. G., Jacquemier, J., Jakrot, V., Jamieson, N. B., Jang, G. H., Jang, S. J., Jayaseelan, J. C., Jayasinghe, R., Jefferys, S. R., Jegalian, K., Jennings, J. L., Jeon, S-H., Jerman, L., Ji, Y., Jiao, W., Johansson, P. A., Johns, A. L., Johns, J., Johnson, R., Johnson, T. A., Jolly, C., Joly, Y., Jonasson, J. G., Jones, C. D., Jones, D. R., Jones, N., Jones, S. J. M., Jonkers, J., Juhl, H., Jung, J., Juul, M., Juul, R. I., Juul, S., Jäger, N., Kabbe, R., Kahles, A., Kahraman, A., Kaiser, V. B., Kakavand, H., Kalimuthu, S., von Kalle, C., Kang, K. J., Karaszi, K., Karlan, B., Karlić, R., Karsch, D., Kasaian, K., Kassahn, K. S., Katai, H., Kato, M., Katoh, H., Kawakami, Y., Kay, J. D., Kazakoff, S. H., Keays, M., Kebebew, E., Kefford, R. F., Kellis, M., Kench, J. G., Kennedy, C. J., Kerssemakers, J. N. A., Khoo, D., Khoo, V., Khuntikeo, N., Khurana, E., Kilpinen, H., Kim, H. K., Kim, H-L., Kim, H-Y., Kim, H., Kim, J., Kim, J. K., Kim, Y., King, T. A., Klapper, W., Kleinheinz, K., Knappskog, S., Kneba, M., Knoppers, B. 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مصطلحات موضوعية: RC0254 Neoplasms. Tumors. Oncology (including Cancer)

وصف الملف: text

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الإتاحة: https://doi.org/10.1038/s41588-019-0576-7Test
https://openaccess.city.ac.uk/id/eprint/32290Test/
https://openaccess.city.ac.uk/id/eprint/32290/1/s41588-019-0576-7.pdfTest
https://openaccess.city.ac.uk/id/eprint/32290/2/s41588-020-0634-1.pdfTest
https://openaccess.city.ac.uk/id/eprint/32290/3/s41588-023-01315-z.pdfTest