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

Krzywinski, Martin, Bosdet, Ian, Mathewson, Carrie, Wye, Natasja, Brebner, Jay, Chiu, Readman, Corbett, Richard, Field, Matthew, Lee, Darlene, Pugh, Trevor, Volik, Stas, Siddiqui, Asim, Jones, Steven, Schein, Jacquie, Collins, Collin, and Marra, Marco (2007) A BAC clone fingerprinting approach to the detection of human genome rearrangements. Genome Biology, 8 (10). R224. pp. 1-17.

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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.

Item ID: 43579
Item Type: Article (Research - C1)
ISSN: 1474-760X
Additional Information:

© 2007 Krzywinski et al.; licensee BioMed Central Ltd.

This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Funders: National Human Genome Research Institute (NHGRI), National Cancer Institute of Canada (NCIC), Genome BC (GBC), Genome Canada (GC), BC Cancer Foundation
Projects and Grants: NHGRI grant 5-U01-HG002743-03
Date Deposited: 22 Jul 2016 04:40
FoR Codes: 06 BIOLOGICAL SCIENCES > 0601 Biochemistry and Cell Biology > 060102 Bioinformatics @ 50%
06 BIOLOGICAL SCIENCES > 0604 Genetics > 060408 Genomics @ 50%
SEO Codes: 97 EXPANDING KNOWLEDGE > 970106 Expanding Knowledge in the Biological Sciences @ 100%
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