title: A BAC clone fingerprinting approach to the detection of human genome rearrangements.
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.
authors.affiliation: BC Cancer Agency Genome Sciences Centre, West 7th Avenue, Vancouver, British Columbia, Canada V5Z 4S6. martink@bcgsc.ca
authors.forename: Martin
authors.initials: M
authors.lastname: Krzywinski
authors.forename: Ian
authors.initials: I
authors.lastname: Bosdet
authors.forename: Carrie
authors.initials: C
authors.lastname: Mathewson
authors.forename: Natasja
authors.initials: N
authors.lastname: Wye
authors.forename: Jay
authors.initials: J
authors.lastname: Brebner
authors.forename: Readman
authors.initials: R
authors.lastname: Chiu
authors.forename: Richard
authors.initials: R
authors.lastname: Corbett
authors.forename: Matthew
authors.initials: M
authors.lastname: Field
authors.forename: Darlene
authors.initials: D
authors.lastname: Lee
authors.forename: Trevor
authors.initials: T
authors.lastname: Pugh
authors.forename: Stas
authors.initials: S
authors.lastname: Volik
authors.forename: Asim
authors.initials: A
authors.lastname: Siddiqui
authors.forename: Steven
authors.initials: S
authors.lastname: Jones
authors.forename: Jacquie
authors.initials: J
authors.lastname: Schein
authors.forename: Collin
authors.initials: C
authors.lastname: Collins
authors.forename: Marco
authors.initials: M
authors.lastname: Marra
mesh_terms: D022202:Chromosomes, Artificial, Bacterial; D003198:Computer Simulation; D016172:DNA Fingerprinting / Q000379:methods*; D017931:DNA Primers; D004262:DNA Restriction Enzymes; D015321:Gene Rearrangement / Q000235:genetics*; D015894:Genome, Human / Q000235:genetics*; D006801:Humans
chemical_list: D017931:DNA Primers; D004262:DNA Restriction Enzymes