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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Methods Online
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6547454/
https://www.ncbi.nlm.nih.gov/pubmed/30869147
http://dx.doi.org/10.1093/nar/gkz164

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6547454/
https://www.ncbi.nlm.nih.gov/pubmed/30869147
http://dx.doi.org/10.1093/nar/gkz164

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