Integration of Hi-C and long-read sequencing reveals the structure of highly rearranged chromosomes in patients with germline-chromothripsis
Robert Schoepflin,Uira Souto Melo,Hossein Moeinzadeh,David Heller,Verena Heinrich, Jakob Herztberg,Michael Robson,Alessa Ringel,Konrad Chudzik,Manuel Holtgrewe,Nico Alavi,Marius-Konstantin Klever,Julius Jungnitsch,Emel Comak,Seval Tuerkmen,Yannis Duffourd,Laurence Faivre,Orsetta Zuffardi,Romano Tenconi,Nehir Edibe Kurtas,Sabrina Giglio,Volkmar Beensen,Gotthold Barbi,Bettina Prager,Anna Latos-Bielenska,Ida Vogel,Merete Bugge,Niels Tommerup,Malte Spielmann,Vera M. Kalscheuer,Antonio Vitobello,Martin Vingron,Stefan Mundlos EUROPEAN JOURNAL OF HUMAN GENETICS(2022)
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