Article
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Human mutation - 1 Feb 2017
Nilsson Daniel, Pettersson Maria, Gustavsson Peter, Förster Alisa, Hofmeister Wolfgang, Wincent Josephine, Zachariadis Vasilios, Anderlid Britt-Marie, Nordgren Ann, Mäkitie Outi, Wirta Valtteri, Käller Max, Vezzi Francesco, Lupski James R, Nordenskjöld Magnus, Lundberg Elisabeth Syk, Carvalho Claudia M B, Lindstrand Anna
Abstract excerpt
Most balanced translocations are thought to result mechanistically from nonhomologous end joining or, in rare cases of recurrent events, by nonallelic homologous recombination. Here, we use low-coverage mate pair whole-genome sequencing to fine map rearrangement breakpoint junctions in both phenotypically normal and affected translocation carriers. In total, 46 junctions from 22 carriers of balanced...
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