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: MEDICINE
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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
Singapore
content_provider NUS Library
collection ScholarBank@NUS
description 10.1038/s41467-019-10717-9
author2 MEDICINE
author_facet MEDICINE
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_ 1821182301810196480
spelling sg-nus-scholar.10635-1981552024-11-13T16:31:04Z 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. MEDICINE DEAN'S OFFICE (SSH SCH OF PUBLIC HEALTH) 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