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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Detalles Bibliográficos
Autores principales: Calabrese, Claudia, Simone, Domenico, Diroma, Maria Angela, Santorsola, Mariangela, Guttà, Cristiano, Gasparre, Giuseppe, Picardi, Ernesto, Pesole, Graziano, Attimonelli, Marcella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Applications Notes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4201154/
https://www.ncbi.nlm.nih.gov/pubmed/25028726
http://dx.doi.org/10.1093/bioinformatics/btu483

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