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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Bibliografiske detaljer
Udgivet i: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
Sprog:Inglês
Udgivet: Oxford University Press 2019
Fag:
Methods Online
Online adgang: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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