Tools

2019-01-29  本文已影响0人  浩瀚之宇

https://github.com/mitoNGS
https://github.com/HSGU-NIA/mitoAnalyzer
https://github.com/mitoNGS/MToolBox
https://github.com/trichelab/MTseeker
https://bioconductor.org/packages/release/bioc/html/MTseeker.html
https://github.com/Runsheng/mitovar
https://github.com/seppinho/mutation-server Low-Frequency Variant Detection in mtDNA data

https://github.com/mnievesc/Ancient_mtDNA_Pipeline
https://github.com/mrinalmanu/mtDNA-CNV
https://github.com/reenadebray/mtDNA_copy_number
https://github.com/Helgriff/MitoCirco

Online resources for annotation and prioritization of mtDNA variants.

Tool Website References
A. ANNOTATION TOOLS AND PRIORITIZATION PIPELINES
MSeqDR MvTool https://mseqdr.org/ Shen et al., 2018
Mitoseek https://github.com/riverlee/MitoSeek Guo et al., 2013
mtDNA-Server https://mtdna-server.uibk.ac.at/index.html Weissensteiner et al., 2016a
MITOMASTER https://www.mitomap.org/foswiki/bin/view/MITOMASTER/WebHome Lott et al., 2013
SG-Adviser https://genomics.scripps.edu/mtdna/ Rueda and Torkamani, 2017
Mitotool http://www.mitotool.org/ Fan and Yao, 2011
Mit-O-Matic http://genome.igib.res.in/mitomatic/help.html Vellarikkal et al., 2015
Database Specificity Website References
B. ONLINE DATABASES DEDICATED To mtDNA
HmtDB mtDNA variants https://www.hmtdb.uniba.it/ Clima et al., 2017
HmtVAR mtDNA variants https://www.hmtvar.uniba.it/ Preste et al., 2018
MITOMAP mtDNA variants https://www.mitomap.org/foswiki/bin/view/MITOMAP/WebHome Kogelnik et al., 1996
Mitobreak mtDNA rearrangements http://mitobreak.portugene.com Damas et al., 2014
EMPOP Forensic database https://empop.online/ Parson and Dur, 2007
Mamit-tRNA tRNA variants http://mamit-trna.u-strasbg.fr/ Putz et al., 2007
PhyloTreemt Phylogenetic tree http://www.phylotree.org/ van Oven and Kayser, 2009
Database Website References
C. ONLINE GENERAL DATABASES INCLUDING mtDNA DATA
CLINVAR https://www.ncbi.nlm.nih.gov/clinvar/ Landrum et al., 2016
CLINVAR Miner https://clinvarminer.genetics.utah.edu/ Henrie et al., 2018
OMIM https://www.omim.org/ Amberger et al., 2015
Tool Specificity Website References
D. In silico PREDICTION TOOLS
APOGEE Coding variants http://mitimpact.css-mendel.it Castellana et al., 2017
MToolbox Coding variants https://github.com/mitoNGS/MToolBox Calabrese et al., 2014
Mitimpact2 Coding variants http://mitimpact.css-mendel.it/ Castellana et al., 2015
Mitoclass.1 Coding variants https://github.com/tonomartin2/MITOCLASS.1 Martin-Navarro et al., 2017
MITOTIP tRNA variants https://www.mitomap.org/foswiki/bin/view/MITOMAP/MitoTipInfo Sonney et al., 2017
PON-mt-tRNA tRNA variants http://structure.bmc.lu.se/PON-mt-tRNA/ Niroula and Vihinen, 2016
Haplogrep2 Haplogroup prediction https://haplogrep.uibk.ac.at/ Weissensteiner et al., 2016b
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