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Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0 by Mazin A Zamzami; Gareth R Price; Robert W Taylor; Emma L Blakely; Iulia Oancea; Francis Bowling; John A Duley is a Medicine article available to read on EtoBox.

What is Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0 about?

## Background Developments in DNA resequencing microarrays include mitochondrial DNA (mtDNA) sequencing and mutation detection. Failure by the microarray to identify a base, compared to the reference sequence, is designated an 'N-call.' This study re-examined the N-call distribution of mtDNA samples sequenced by the Affymetrix MitoChip v.2.0, based on the hypothesis that N-calls may represent insertions or deletions (indels) in mtDNA. ## Findings We analysed 16 patient mtDNA samples using MitoChip. N-calls by the proprietary GSEQ software were significantly reduced when either of the freeware on-line algorithms ResqMi or sPROFILER was utilized. With sPROFILER, this decrease in N-calls had no effect on the homoplasmic or heteroplasmic mutation levels compared to GSEQ software, but ResqMi produced a significant change in mutation load, as well as producing longer N-cell stretches. For these reasons, further analysis using ResqMi was not attempted. Conventional DNA sequencing of the longer N-calls stretches from sPROFILER revealed 7 insertions and 12 point mutations. Moreover, analysis of single-base N-calls of one mtDNA sample found 3 other point mutations. ## Conclusions Our study i

Who reads Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0?

Author

Mazin A Zamzami; Gareth R Price; Robert W Taylor; Emma L Blakely; Iulia Oancea; Francis Bowling; John A Duley

Publisher

BioMed Central; Springer (Biomed Central Ltd.); London: Biomed Central, 2008-; Publons; Springer Science and Business Media LLC; Society for Mining, Metallurgy and Exploration Inc. (ISSN 1756-0500)

Published

2011

Language

EN

Field

Medicine (Health Sciences)