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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Veröffentlicht in:Nucleic Acids Res
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Oxford University Press 2019
Schlagworte:
Methods Online
Online Zugang: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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