A BAC clone fingerprinting approach to the detection of human genome rearrangements
Genome biologyPublished 22 October 2007Open access
Martin Krzywinski, Ian Bosdet, Carrie Mathewson, Natasja Wye, Jay Brebner, Readman Chiu
Citations12
SJR quartileQ1
SJR score5.71
SNIP2.21
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TL;DR
The approach uses alignment of experimental fingerprint patterns to in silico digests of the sequence assembly and is capable of detecting micro-deletions and balanced rearrangements in the human genome.
Abstract
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.
Keywords
Agricultural and Biological SciencesBiochemistry, Genetics and Molecular Biology
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