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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Calabrese, Claudia, Simone, Domenico, Diroma, Maria Angela, Santorsola, Mariangela, Guttà, Cristiano, Gasparre, Giuseppe, Picardi, Ernesto, Pesole, Graziano, Attimonelli, Marcella
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2014
Soggetti:
Applications Notes
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi