Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene

@article{Slade2009ConstitutionalTB,
  title={Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene},
  author={Ingrid Slade and Philip J. Stephens and Jessica Douglas and Karen T. Barker and Lucy A. Stebbings and Fatemeh Abbaszadeh and Kathryn Pritchard-Jones and Regina Cole and Barry L. Pizer and Charles A Stiller and Gordan M. Vujani{\'c} and Richard H. Scott and Michael R. Stratton and Nazneen Rahman},
  journal={Journal of Medical Genetics},
  year={2009},
  volume={47},
  pages={342 - 347}
}
Background Localisation of the breakpoints of chromosomal translocations has aided the discovery of several disease genes but has traditionally required laborious investigation of chromosomes by fluorescent in situ hybridisation approaches. Here, a strategy that utilises genome-wide paired-end massively parallel DNA sequencing to rapidly map translocation breakpoints is reported. This method was used to fine map a de novo t(5;6)(q21;q21) translocation in a child with bilateral, young-onset… 

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