A BAC clone fingerprinting approach to the detection of human genome rearrangements

@article{Krzywinski2007ABC,
  title={A BAC clone fingerprinting approach to the detection of human genome rearrangements},
  author={Martin Krzywinski and Ian E. Bosdet and Carrie A. Mathewson and Natasja H. Wye and Jay Brebner and Readman Chiu and R. de la Cour Corbett and Matthew Field and Darlene Lee and Trevor J. Pugh and Stanislav Volik and Asim S. Siddiqui and Steven J. Jones and Jacqueline E. Schein and Colin Collins and Marco A. Marra},
  journal={Genome Biology},
  year={2007},
  volume={8},
  pages={R224 - R224}
}
We present a method, called fingerprint profiling (FPP), that uses restriction digest fingerprints of bacterial artificial chromosome clones to detect and classify rearrangements in the human genome. The approach uses alignment of experimental fingerprint patterns to in silico digests of the sequence assembly and is capable of detecting micro-deletions (1-5 kb) and balanced rearrangements. Our method has compelling potential for use as a whole-genome method for the identification and… CONTINUE READING
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