Whole genome sequencing of cytogenetically balanced chromosome translocations identifies potentially pathological gene disruptions and highlights the importance of microhomology in the mechanism of formation

Most balanced translocations are thought to result mechanistically from non-homologous endjoining (NHEJ) or, in rare cases of recurrent events, by nonallelic homologous recombination (NAHR). Here, we use low coverage mate pair whole genome sequencing to fine map rearrangement breakpoint junctions in...

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Détails bibliographiques
Publié dans:Hum Mutat
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: 2016
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5225243/
https://ncbi.nlm.nih.gov/pubmed/27862604
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23146
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