Name
Title | ||
|---|---|---|
MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing. |
Abstract | ||
|---|---|---|
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 mitochondrial variants among a huge number of candidates. To this purpose, we developed MToolBox, a highly automated pipeline to reconstruct and analyze human mitochondrial DNA from high-throughput sequencing data. Results: MToolBox implements an effective computational strategy for mitochondrial genomes assembling and haplogroup assignment also including a prioritization analysis of detected variants. MToolBox provides a Variant Call Format file featuring, for the first time, allele-specific heteroplasmy and annotation files with prioritized variants. MToolBox was tested on simulated samples and applied on 1000 Genomes WXS datasets. |
Year | DOI | Venue |
|---|---|---|
2014 | 10.1093/bioinformatics/btu483 | BIOINFORMATICS |
Keywords | Field | DocType |
genetic variation | Genome,Data mining,Computer science,Heteroplasmy,1000 Genomes Project,Variant Call Format,DNA sequencing,Bioinformatics,Molecular Sequence Annotation,Exome sequencing,Human mitochondrial genetics | Journal |
Volume | Issue | ISSN |
30 | 21 | 1367-4803 |
Citations | PageRank | References |
7 | 0.97 | 3 |
Authors | ||
9 | ||
Name | Order | Citations | PageRank |
|---|---|---|---|
| Claudia Calabrese | 1 | 15 | 2.68 |
| Domenico Simone | 2 | 18 | 2.63 |
| Maria Angela Diroma | 3 | 9 | 2.40 |
| Mariangela Santorsola | 4 | 8 | 1.36 |
| Cristiano Guttà | 5 | 7 | 0.97 |
| Giuseppe Gasparre | 6 | 14 | 2.67 |
| Ernesto Picardi | 7 | 152 | 15.76 |
| Graziano Pesole | 8 | 942 | 107.35 |
| Marcella Attimonelli | 9 | 162 | 52.64 |