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Lookup NU author(s): Dr John Yarham,
Professor Bobby McFarlandORCiD,
Professor Robert Taylor,
Dr Joanna Elson
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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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