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

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 sequenc...

Descripción completa

Detalles Bibliográficos
Autores principales: 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, Marra, Marco
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2246298/
https://www.ncbi.nlm.nih.gov/pubmed/17953769
http://dx.doi.org/10.1186/gb-2007-8-10-r224
_version_ 1782150761900146688
author 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
Marra, Marco
author_facet 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
Marra, Marco
author_sort Krzywinski, Martin
collection PubMed
description 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.
format Text
id pubmed-2246298
institution National Center for Biotechnology Information
language English
publishDate 2007
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-22462982008-02-20 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 Marra, Marco Genome Biol Method 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. BioMed Central 2007 2007-10-22 /pmc/articles/PMC2246298/ /pubmed/17953769 http://dx.doi.org/10.1186/gb-2007-8-10-r224 Text en Copyright © 2007 Krzywinski et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 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.
spellingShingle Method
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
Marra, Marco
A BAC clone fingerprinting approach to the detection of human genome rearrangements
title A BAC clone fingerprinting approach to the detection of human genome rearrangements
title_full A BAC clone fingerprinting approach to the detection of human genome rearrangements
title_fullStr A BAC clone fingerprinting approach to the detection of human genome rearrangements
title_full_unstemmed A BAC clone fingerprinting approach to the detection of human genome rearrangements
title_short A BAC clone fingerprinting approach to the detection of human genome rearrangements
title_sort bac clone fingerprinting approach to the detection of human genome rearrangements
topic Method
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2246298/
https://www.ncbi.nlm.nih.gov/pubmed/17953769
http://dx.doi.org/10.1186/gb-2007-8-10-r224
work_keys_str_mv AT krzywinskimartin abacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT bosdetian abacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT mathewsoncarrie abacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT wyenatasja abacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT brebnerjay abacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT chiureadman abacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT corbettrichard abacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT fieldmatthew abacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT leedarlene abacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT pughtrevor abacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT volikstas abacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT siddiquiasim abacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT jonessteven abacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT scheinjacquie abacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT collinscollin abacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT marramarco abacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT krzywinskimartin bacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT bosdetian bacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT mathewsoncarrie bacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT wyenatasja bacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT brebnerjay bacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT chiureadman bacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT corbettrichard bacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT fieldmatthew bacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT leedarlene bacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT pughtrevor bacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT volikstas bacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT siddiquiasim bacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT jonessteven bacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT scheinjacquie bacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT collinscollin bacclonefingerprintingapproachtothedetectionofhumangenomerearrangements
AT marramarco bacclonefingerprintingapproachtothedetectionofhumangenomerearrangements

Ejemplares similares