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      Ultra-high resolution array painting facilitates breakpoint sequencing.

      Journal of Medical Genetics

      Chromosome Mapping, Translocation, Genetic, methods, Oligonucleotide Array Sequence Analysis, Molecular Sequence Data, Male, Infant, In Situ Hybridization, Fluorescence, Humans, Flow Cytometry, genetics, Chromosomes, Human, Chromosome Painting, Chromosome Breakage, Child, Preschool, Adult

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          Abstract

          To describe a considerably advanced method of array painting, which allows the rapid, ultra-high resolution mapping of translocation breakpoints such that rearrangement junction fragments can be amplified directly and sequenced. Ultra-high resolution array painting involves the hybridisation of probes generated by the amplification of small numbers of flow-sorted derivative chromosomes to oligonucleotide arrays designed to tile breakpoint regions at extremely high resolution. How ultra-high resolution array painting of four balanced translocation cases rapidly and efficiently maps breakpoints to a point where junction fragments can be amplified easily and sequenced is demonstrated. With this new development, breakpoints can be mapped using just two array experiments: the first using whole-genome array painting to tiling resolution large insert clone arrays, the second using ultra-high-resolution oligonucleotide arrays targeted to the breakpoint regions. In this way, breakpoints can be mapped and then sequenced in a few weeks.

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          Author and article information

          Journal
          16971479
          2597908
          10.1136/jmg.2006.044909

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