Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP
Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP
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United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Novel or rare variants in mitochondrial tRNA sequences may be observed after mitochondrial DNA analysis. Determining whether these variants are pathogenic is critical, but confirmation of the effect of a variant on mitochondrial function can be challenging. We have used available databases of benign and pathogenic variants, alignment between diverse tRNAs, structural information and comparative genomics to predict the impact of all possible single-base variants and deletions. The Mitochondrial tRNA Informatics Predictor (MitoTIP) is available through MITOMAP at www.mitomap.org. The source code for MitoTIP is available at www.github.com/sonneysa/MitoTIP....
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Full title
Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP
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TN_cdi_plos_journals_1988038433
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1988038433
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ISSN
1553-7358,1553-734X
E-ISSN
1553-7358
DOI
10.1371/journal.pcbi.1005867
