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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Main Authors: 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.
Other Authors: DEAN'S OFFICE (SSH SCH OF PUBLIC HEALTH)
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Published: Nature Research 2021
Online Access:https://scholarbank.nus.edu.sg/handle/10635/198155
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continent Asia
country Singapore
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content_provider NUS Library
collection ScholarBank@NUS
description 10.1038/s41467-019-10717-9
author2 DEAN'S OFFICE (SSH SCH OF PUBLIC HEALTH)
author_facet 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.
format Article
author 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.
spellingShingle 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