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    • A high-quality human reference panel reveals the complexity and distribution of genomic structural variants 

      Hehir-Kwa, Jayne Y.; Marschall, Tobias; Kloosterman, Wigard P.; Francioli, Laurent C.; Baaijens, Jasmijn A.; Dijkstra, Louis J.; Abdellaoui, Abdel; Koval, Vyacheslav; Thung, Djie Tjwan; Wardenaar, René; Renkens, Ivo; Coe, Bradley P.; Deelen, Patrick; de Ligt, Joep; Lameijer, Eric-Wubbo; van Dijk, Freerk; Hormozdiari, Fereydoun; Bovenberg, Jasper A.; de Craen, Anton J. M.; Beekman, Marian; Hofman, Albert; Willemsen, Gonneke; Wolffenbuttel, Bruce; Platteel, Mathieu; Du, Yuanping; Chen, Ruoyan; Cao, Hongzhi; Cao, Rui; Sun, Yushen; Cao, Jeremy Sujie; Neerincx, Pieter B. T.; Dijkstra, Martijn; Byelas, George; Kanterakis, Alexandros; Bot, Jan; Vermaat, Martijn; Laros, Jeroen F. J.; den Dunnen, Johan T.; de Knijff, Peter; Karssen, Lennart C.; van Leeuwen, Elisa M.; Amin, Najaf; Rivadeneira, Fernando; Estrada, Karol; Hottenga, Jouke-Jan; Kattenberg, V. Mathijs; van Enckevort, David; Mei, Hailiang; Santcroos, Mark; van Schaik, Barbera D. C.; Handsaker, Robert E.; McCarroll, Steven A.; Ko, Arthur; Sudmant, Peter; Nijman, Isaac J.; Uitterlinden, André G.; van Duijn, Cornelia M.; Eichler, Evan E.; de Bakker, Paul I. W.; Swertz, Morris A.; Wijmenga, Cisca; van Ommen, Gert-Jan B.; Slagboom, P. Eline; Boomsma, Dorret I.; Schönhuth, Alexander; Ye, Kai; Guryev, Victor (Nature Publishing Group, 2016)
      Structural variation (SV) represents a major source of differences between individual human genomes and has been linked to disease phenotypes. However, the majority of studies provide neither a global view of the full ...