A structural variation reference for medical and population genetics

L. Collins, Ryan; Brand, Harrison; J. Karczewski, Konrad; Zhao, Xuefang; Alföldi, Jessica; C. Francioli, Laurent; Khera, Amit; Lowther, Chelsea; D. Gauthier, Laura; Wang, Harold; A. Watts, Nicholas; Solomonson, Matthew; O’Donnell‐Luria, Anne; Baumann, Alexander; Munshi, Ruchi; Walker, Mark; W. Whelan, Christopher; Huang, Yongqing; Brookings, Ted; Sharpe, Ted; R. Stone, Matthew; Valkanas, Elise; Fu, Jack; Tiao, Grace; M. Laricchia, Kristen; Ruano-Rubio, Valentín; Stevens, Christine; Gupta, Namrata; Cusick, Caroline; Margolin, Lauren; Aggregation Database Production Team, Genome; Alföldi, Jessica; M. Armean, Irina; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; L. Collins, Ryan; M. Connolly, Kristen; Covarrubias, Miguel; B. Cummings, Beryl; J. Daly, Mark; Donnelly, Stacey; Farjoun, Yossi; Ferriera, Steven; C. Francioli, Laurent; Gabriel, Stacey; D. Gauthier, Laura; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; J. Karczewski, Konrad; M. Laricchia, Kristen; Llanwarne, Christopher; Vallabh Minikel, Eric; Munshi, Ruchi; M. Neale, Benjamin; Novod, Sam; O’Donnell‐Luria, Anne; Petrillo, Nikelle; Poterba, Timothy; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; E. Samocha, Kaitlin; Schleicher, Molly; Seed, Cotton; Solomonson, Matthew; Soto, José; Tiao, Grace; Tibbetts, Kathleen; Tolonen, Charlotte; Vittal, Christopher; Wade, Gordon; Wang, Arcturus; S. Wang, Qingbo; S. Ware, James; A. Watts, Nicholas; Weisburd, Ben; Whiffin, Nicola; A. Aguilar‐Salinas, Carlos; Ahmad, Tariq; M. Albert, Christine; Ardissino, Diego; Atzmon, Gil; A. Barnard, J.; Beaugerie, Laurent; J. Benjamin, Emelia; Boehnke, Michael; L. Bonnycastle, Lori; P. Böttinger, Erwin; W. Bowden, Donald; J. Bown, Matthew; C. Chambers, John; C.N. Chan, Juliana; I. Chasman, Daniel; H. Cho, Judy; K. Chung, Mina; M. Cohen, Bruce; Correa, Adolfo; Dabelea, Dana; J. Daly, Mark; Darbar, Dawood; Duggirala, Ravindranath; Dupuis, Josée; T. Ellinor, Patrick; Elosúa, Roberto; Erdmann, Jeanette; Esko, Tõnu; Färkkilâ, Martti; C. Florez, José; Franke, André; Getz, Gad; Gläser, Benjamin; J. Glatt, Stephen; B. Goldstein, David; González, Clicerio; Groop, Leif; A. Haiman, Christopher; L. Hanis, Craig; Harms, Matthew; Hiltunen, Mikko; Holi, Matti; M. Hultman, Christina; Kallela, Mikko; Kaprio, Jaakko; Kathiresan, Sekar; Kim, Bong-Jo; Jin Kim, Young; Kirov, George; S. Kooner, Jaspal; Koskinen, Seppo; M. Krumholz, Harlan; Kugathasan, Subra; Heon Kwak, Soo; Laakso, Markku; Lehtimäki, Terho; J. F. Loos, Ruth; A. Lubitz, Steven; C.W., Ronald; G. MacArthur, Daniel; Marrugat, Jaume; M. Mattila, Kari; A. McCarroll, Steven; I. McCarthy, Mark; McGovern, Dermot; McPherson, Ruth; B. Meigs, James; Melander, Olle; Metspalu, Andres; M. Neale, Benjamin; M. Nilsson, Peter; O‘Donovan, Michael; Öngür, Döst; Orozco, Lorena; J. Owen, Michael; N. A. Palmer, Colin; Palotie, Aarno; Soo Park, Kyong; N. Pato, Carlos; E. Pulver, Ann; Rahman, Nazneen; M. Remes, Anne; D. Rioux, John; Ripatti, Samuli; M. Roden, Dan; Saleheen, Danish; Salomaa, Veikko; J. Samani, Nilesh; M. Scharf, Jeremiah; Schunkert, Heribert; Benjamin Shoemaker, M.; Sklar, Pamela; Soininen, Hilkka; Sokol, Harry; D. Spector, Tim; F. Sullivan, Patrick; Suvisaari, Jaana; Shyong Tai, E; Ying Teo, Yik; Tiinamaija, Tuomi; T. Tsuang, Ming; Turner, Dan; Tusié‐Luna, Teresa; Vartiainen, Erkki; P. Vawter, Marquis; S. Ware, James; Watkins, Hugh; K. Weersma, Rinse; Wessman, Maija; Wilson, James; J. Xavier, Ramnik; D. Taylor, Kent; J. Lin, Henry; S. Rich, Stephen; S. Post, Wendy; Ida Chen, Yii‐Der; I. Rotter, Jerome; Nusbaum, Chad; Philippakis, Anthony; S. Lander, Eric; Gabriel, Stacey; M. Neale, Benjamin; Kathiresan, Sekar; J. Daly, Mark; Banks, Eric; G. MacArthur, Daniel; E. Talkowski, Michael

doi:10.1038/s41586-020-2287-8

Public

A structural variation reference for medical and population genetics

Published in Nature • May 27, 2020

Authors:

Ryan L. Collins

Harrison Brand

Konrad J. Karczewski

Abstract

Abstract Structural variants (SVs) rearrange large segments of DNA 1 and can have profound consequences in evolution and human disease 2,3 . As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome sequencing, population references suc...

Subject

Variation (astronomy)

Medical genetics

Population genetics

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