Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
10.1038/s41467-019-10717-9
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DEAN'S OFFICE (SSH SCH OF PUBLIC HEALTH) 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. |
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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. |
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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. Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals |
author_sort |
Whiffin, N. |
title |
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals |
title_short |
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals |
title_full |
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals |
title_fullStr |
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals |
title_full_unstemmed |
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals |
title_sort |
characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals |
publisher |
Nature Research |
publishDate |
2021 |
url |
https://scholarbank.nus.edu.sg/handle/10635/198155 |
_version_ |
1800914939722858496 |
spelling |
sg-nus-scholar.10635-1981552024-05-08T09:52:11Z Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals 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. DEAN'S OFFICE (SSH SCH OF PUBLIC HEALTH) MEDICINE 10.1038/s41467-019-10717-9 Nature Communications 11 1 2523 2021-08-19T04:57:14Z 2021-08-19T04:57:14Z 2020 Article 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/s41467-019-10717-9 https://scholarbank.nus.edu.sg/handle/10635/198155 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Nature Research Scopus OA2020 |