MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing

Motivation: The increasing availability of mitochondria-targeted and off-target sequencing data in whole-exome and whole-genome sequencing studies (WXS and WGS) has risen the demand of effective pipelines to accurately measure heteroplasmy and to easily recognize the most functionally important mito...

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Autors principals: Calabrese, Claudia, Simone, Domenico, Diroma, Maria Angela, Santorsola, Mariangela, Guttà, Cristiano, Gasparre, Giuseppe, Picardi, Ernesto, Pesole, Graziano, Attimonelli, Marcella
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2014
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Applications Notes
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4201154/
https://ncbi.nlm.nih.gov/pubmed/25028726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btu483
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