Method
A BAC clone fingerprinting approach to the detection of human genome rearrangements
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* Corresponding author: Marco Marra mmarra@bcgsc.ca
1 BC Cancer Agency Genome Sciences Centre, West 7th Avenue, Vancouver, British Columbia, Canada V5Z 4S6
2 Cancer Research Institute, University of California at San Francisco, San Francisco, California, USA 94143-0808
Genome Biology 2007, 8:R224 doi:10.1186/gb-2007-8-10-r224
Published: 22 October 2007Abstract
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 characterization of human genome rearrangements.