Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders

Deletions in the 16.6 kb mitochondrial genome have been implicated in numerous disorders that often display muscular and/or neurological symptoms due to the high-energy demands of these tissues. We describe a catalogue of 4489 putative mitochondrial DNA (mtDNA) deletions, including their frequency a...

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Bibliographic Details
Published in:Nucleic Acids Res
Main Authors: Hjelm, Brooke E, Rollins, Brandi, Morgan, Ling, Sequeira, Adolfo, Mamdani, Firoza, Pereira, Filipe, Damas, Joana, Webb, Michelle G, Weber, Matthieu D, Schatzberg, Alan F, Barchas, Jack D, Lee, Francis S, Akil, Huda, Watson, Stanley J, Myers, Richard M, Chao, Elizabeth C, Kimonis, Virginia, Thompson, Peter M, Bunney, William E, Vawter, Marquis P
Format: Artigo
Language:Inglês
Published: Oxford University Press 2019
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Methods Online
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6547454/
https://ncbi.nlm.nih.gov/pubmed/30869147
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkz164
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