Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

Daniel Nilsson,Maria Pettersson,Peter Gustavsson,Alisa Förster,Wolfgang Hofmeister,Josephine Wincent,Vasilios Zachariadis,Britt-Marie Anderlid,Ann Nordgren,Outi Mäkitie,Valtteri Wirta,Max Käller,Francesco Vezzi,James R. Lupski,Magnus Nordenskjöld,Elisabeth Syk Lundberg,Claudia M.B. Carvalho,Anna Lindstrand

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

2017

Daniel Nilsson
Maria Pettersson
Peter Gustavsson
Alisa Förster
Wolfgang Hofmeister
Josephine Wincent
Vasilios Zachariadis
Britt-Marie Anderlid
Ann Nordgren
Outi Mäkitie
Valtteri Wirta
Max Käller
Francesco Vezzi
James R. Lupski
Magnus Nordenskjöld
Elisabeth Syk Lundberg
Claudia M.B. Carvalho
Anna Lindstrand

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-cov ...

Keywords:

Genetics
Non-homologous end joining
Chromosomal translocation
Non-allelic homologous recombination
Gene
Chromosome
Biology
Whole genome sequencing
chromosome translocations
Breakpoint
Pathological

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