Lookup NU author(s): Dr John Yarham,
Professor Bobby McFarland,
Professor Robert Taylor,
Dr Joanna Elson
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
Assigning pathogenicity to mt-tRNA variants requires multiple strands of evidence. Evolutionary conservation is often considered mandatory, but lack of a standard panel of organisms to assess conservation complicates comparison between reports and undermines the value of conservation-based evidence. We demonstrate that intra-species MTT sequence variation is sufficiently low for sequence data from a single organism to adequately represent a species. On this basis, we propose a standardised panel of organisms for conservation assessment and describe integration of this conservation panel into a pathogenicity scoring system designed to assess mt-tRNA variation associated with mitochondrial disease.
Author(s): Yarham JW, McFarland R, Taylor RW, Elson JL
Publication type: Article
Publication status: Published
Print publication date: 07/07/2012
ISSN (print): 1567-7249
ISSN (electronic): 1872-8278
Publisher: Elsevier BV
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