A BAC clone fingerprinting approach to the detection of human genome rearrangements.
Krzywinski M,
Bosdet I,
Mathewson C,
Wye N,
Brebner J,
Chiu R,
Corbett R,
Field M,
Lee D,
Pugh T,
Volik S,
Siddiqui A,
Jones S,
Schein J,
Collins C,
Marra M.
BC Cancer Agency Genome Sciences Centre, West 7th Avenue, Vancouver, British Columbia, Canada V5Z 4S6. martink@bcgsc.ca
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.
PMID: 17953769 [PubMed - indexed for MEDLINE]
PMCID: PMC2246298