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

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

Thieme, Marian, Lottaz, Claudio, Niederstätter, Harald, Parson, Walther, Spang, Rainer and Oefner, Peter J. (2009) ReseqChip: automated integration of multiple local context probe data from the MitoChip array in mitochondrial DNA sequence assembly. BMC bioinformatics 10, p. 440.

Date of publication of this fulltext: 18 Aug 2014 09:47
Article
DOI to cite this document: 10.5283/epub.30662


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 ...

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.



Involved Institutions


Details

Item typeArticle
Journal or Publication TitleBMC bioinformatics
Publisher:BIOMED CENTRAL LTD
Place of Publication:LONDON
Volume:10
Page Range:p. 440
DateDecember 2009
InstitutionsMedicine > Institut für Funktionelle Genomik > Lehrstuhl für Funktionelle Genomik (Prof. Oefner)
Medicine > Institut für Funktionelle Genomik > Lehrstuhl für Statistische Bioinformatik (Prof. Spang)
Informatics and Data Science > Department Computational Life Science > Lehrstuhl für Statistische Bioinformatik (Prof. Spang)
Identification Number
ValueType
10508508PubMed ID
10.1186/1471-2105-10-440DOI
Classification
NotationType
Base SequenceMESH
Computational Biology/methodsMESH
DNA, Mitochondrial/chemistryMESH
Genome, Mitochondrial/geneticsMESH
Sequence Analysis, DNAMESH
SoftwareMESH
KeywordsMUTATIONS; MICROARRAY; GENOME; CANCER; HEAD; NECK;
Dewey Decimal Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgPartially
URN of the UB Regensburgurn:nbn:de:bvb:355-epub-306621
Item ID30662

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