Literature DB >> 20028526

ReseqChip: automated integration of multiple local context probe data from the MitoChip array in mitochondrial DNA sequence assembly.

Marian Thieme1, Claudio Lottaz, Harald Niederstätter, Walther Parson, Rainer Spang, Peter J Oefner.   

Abstract

BACKGROUND: The Affymetrix MitoChip v2.0 is an oligonucleotide tiling array for the resequencing of the human mitochondrial (mt) genome. For each of 16,569 nucleotide positions of the mt genome it holds two sets of four 25-mer probes each that match the heavy and the light strand of a reference mt genome and vary only at their central position to interrogate all four possible alleles. In addition, the MitoChip v2.0 carries alternative local context probes to account for known mtDNA variants. These probes have been neglected in most studies due to the lack of software for their automated analysis.
RESULTS: We provide ReseqChip, a free software that automates the process of resequencing mtDNA using multiple local context probes on the MitoChip v2.0. ReseqChip significantly improves base call rate and sequence accuracy. ReseqChip is available at http://code.open-bio.org/svnweb/index.cgi/bioperl/browse/bioperl-live/trunk/Bio/Microarray/Tools/.
CONCLUSIONS: ReseqChip allows for the automated consolidation of base calls from alternative local mt genome context probes. It thereby improves the accuracy of resequencing, while reducing the number of non-called bases.

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Year:  2009        PMID: 20028526      PMCID: PMC3087351          DOI: 10.1186/1471-2105-10-440

Source DB:  PubMed          Journal:  BMC Bioinformatics        ISSN: 1471-2105            Impact factor:   3.169


  25 in total

1.  Forensic application of the Affymetrix human mitochondrial resequencing array.

Authors:  P M Vallone; J P Jakupciak; M D Coble
Journal:  Forensic Sci Int Genet       Date:  2007-03-07       Impact factor: 4.882

2.  Characterizing the time dependency of human mitochondrial DNA mutation rate estimates.

Authors:  Brenna M Henn; Christopher R Gignoux; Marcus W Feldman; Joanna L Mountain
Journal:  Mol Biol Evol       Date:  2008-11-04       Impact factor: 16.240

3.  Mitochondrial DNA mutations in pancreatic cancer.

Authors:  Keyanoosh Kassauei; Nils Habbe; Michael E Mullendore; Collins A Karikari; Anirban Maitra; Georg Feldmann
Journal:  Int J Gastrointest Cancer       Date:  2006

4.  Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes.

Authors:  Anne Hartmann; Marian Thieme; Lahiri K Nanduri; Thomas Stempfl; Christoph Moehle; Toomas Kivisild; Peter J Oefner
Journal:  Hum Mutat       Date:  2009-01       Impact factor: 4.878

5.  Nonsynonymous somatic mitochondrial mutations occur in the majority of cutaneous melanomas.

Authors:  Suhail K Mithani; Ian M Smith; Suzanne L Topalian; Joseph A Califano
Journal:  Melanoma Res       Date:  2008-06       Impact factor: 3.599

6.  Analysis of mitochondrial DNA in 104 patients with myelodysplastic syndromes.

Authors:  Michael Wulfert; Anna C Küpper; Christoph Tapprich; Sylvia S Bottomley; David Bowen; Ulrich Germing; Rainer Haas; Norbert Gattermann
Journal:  Exp Hematol       Date:  2008-05       Impact factor: 3.084

7.  Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.

Authors:  Marianne Lévêque; Sandrine Marlin; Laurence Jonard; Vincent Procaccio; Pascal Reynier; Patrizia Amati-Bonneau; Sylvain Baulande; Denis Pierron; Didier Lacombe; Françoise Duriez; Christine Francannet; Thierry Mom; Hubert Journel; Hélène Catros; Valérie Drouin-Garraud; Marie-Françoise Obstoy; Hélène Dollfus; Marie-Madeleine Eliot; Laurence Faivre; Christian Duvillard; Remy Couderc; Eréa-Noël Garabedian; Christine Petit; Delphine Feldmann; Françoise Denoyelle
Journal:  Eur J Hum Genet       Date:  2007-07-18       Impact factor: 4.246

8.  Multiple strand displacement amplification of mitochondrial DNA from clinical samples.

Authors:  Samantha Maragh; John P Jakupciak; Paul D Wagner; William N Rom; David Sidransky; Sudhir Srivastava; Catherine D O'Connell
Journal:  BMC Med Genet       Date:  2008-02-07       Impact factor: 2.103

9.  Impact of point-mutations on the hybridization affinity of surface-bound DNA/DNA and RNA/DNA oligonucleotide-duplexes: comparison of single base mismatches and base bulges.

Authors:  Thomas Naiser; Oliver Ehler; Jona Kayser; Timo Mai; Wolfgang Michel; Albrecht Ott
Journal:  BMC Biotechnol       Date:  2008-05-13       Impact factor: 2.563

10.  Facile whole mitochondrial genome resequencing from nipple aspirate fluid using MitoChip v2.0.

Authors:  John P Jakupciak; Andrea Maggrah; Samantha Maragh; Jennifer Maki; Brian Reguly; Katrina Maki; Roy Wittock; Kerry Robinson; Paul D Wagner; Robert E Thayer; Ken Gehman; Teresa Gehman; Sudhir Srivastava; Alioune Ngom; Gabriel D Dakubo; Ryan L Parr
Journal:  BMC Cancer       Date:  2008-04-10       Impact factor: 4.430

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  5 in total

Review 1.  The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies.

Authors:  Hans-Jürgen Bandelt; Anita Kloss-Brandstätter; Martin B Richards; Yong-Gang Yao; Ian Logan
Journal:  J Hum Genet       Date:  2013-12-05       Impact factor: 3.172

2.  Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution.

Authors:  A M Voets; B J C van den Bosch; A P Stassen; A T Hendrickx; D M Hellebrekers; L Van Laer; E Van Eyken; G Van Camp; A Pyle; S V Baudouin; P F Chinnery; H J M Smeets
Journal:  Mitochondrion       Date:  2011-09-17       Impact factor: 4.160

3.  Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0.

Authors:  Mazin A Zamzami; Gareth R Price; Robert W Taylor; Emma L Blakely; Iulia Oancea; Francis Bowling; John A Duley
Journal:  BMC Res Notes       Date:  2011-10-20

4.  Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.

Authors:  Hongbo M Xie; Juan C Perin; Theodore G Schurr; Matthew C Dulik; Sergey I Zhadanov; Joseph A Baur; Michael P King; Emily Place; Colleen Clarke; Michael Grauer; Jonathan Schug; Avni Santani; Anthony Albano; Cecilia Kim; Vincent Procaccio; Hakon Hakonarson; Xiaowu Gai; Marni J Falk
Journal:  BMC Bioinformatics       Date:  2011-10-19       Impact factor: 3.307

5.  Inosine triphosphate pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects.

Authors:  Mazin A Zamzami; John A Duley; Gareth R Price; Deon J Venter; John W Yarham; Robert W Taylor; Laurence P Catley; Timothy H J Florin; Anthony M Marinaki; Francis Bowling
Journal:  J Hematol Oncol       Date:  2013-03-29       Impact factor: 17.388

  5 in total

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