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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Detaylı Bibliyografya
Yayımlandı:Hum Mutat
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2016
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Article
Online Erişim: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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