Ontology highlight
ABSTRACT:
SUBMITTER: Yarham JW
PROVIDER: S-EPMC3510436 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Yarham John W JW McFarland Robert R Taylor Robert W RW Elson Joanna L JL
Mitochondrion 20120707 5
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 ...[more]