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Chromosome conformation capture (HiC) combined with whole genome sequencing for the detection and functional interpretation of complex genomic rearrangements in developmental disease

U. S. Melo,R. Schoepflin, R. A. Hidalgo,M. A. Mensah,B. Fischer-Zirnsak,V. Suckow,S. Turkmen, F. Quintero,S. B. Sousa,P. Louro,M. Spielmann,V. Kalscheuer,I. Datkhaeva,S. Mundlos

EUROPEAN JOURNAL OF HUMAN GENETICS（2019）

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