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Pubmed ID :19948536
Publication Date : //

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


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 Wilms tumour.

Authors : Slade I , Stephens P , Douglas J , Barker K , Stebbings L , Abbaszadeh F , Pritchard-Jones K , , Cole R , Pizer B , Stiller C , Vujanic G , Scott R H , Stratton M R , Rahman N ,

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