Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

10.1038/s41467-019-12438-5

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Main Authors: 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.
Other Authors: DEAN'S OFFICE (SSH SCH OF PUBLIC HEALTH)
Format: Article
Published: Nature Research 2021
Online Access:https://scholarbank.nus.edu.sg/handle/10635/198086
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institution National University of Singapore
building NUS Library
continent Asia
country Singapore
Singapore
content_provider NUS Library
collection ScholarBank@NUS
description 10.1038/s41467-019-12438-5
author2 DEAN'S OFFICE (SSH SCH OF PUBLIC HEALTH)
author_facet DEAN'S OFFICE (SSH SCH OF PUBLIC HEALTH)
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.
format Article
author 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.
spellingShingle 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.
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
author_sort Wang, Q.
title Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
title_short Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
title_full Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
title_fullStr Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
title_full_unstemmed Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
title_sort landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
publisher Nature Research
publishDate 2021
url https://scholarbank.nus.edu.sg/handle/10635/198086
_version_ 1800914935273750528
spelling sg-nus-scholar.10635-1980862024-05-08T09:52:22Z Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes 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. DEAN'S OFFICE (SSH SCH OF PUBLIC HEALTH) MEDICINE 10.1038/s41467-019-12438-5 Nature Communications 11 1 2539 2021-08-19T04:34:55Z 2021-08-19T04:34:55Z 2020 Article 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/s41467-019-12438-5 2041-1723 https://scholarbank.nus.edu.sg/handle/10635/198086 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Nature Research Scopus OA2020