MSeqDR statistics

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Protocols

MSeqDR specifications

Information


Unique identifier OMICS_13630
Name MSeqDR
Alternative name the Mitochondrial Disease Sequence Data Resource Consortium
Restrictions to use None
Database management system MySQL
Community driven No
Data access File download, Browse, Application programming interface
User data submission Allowed
Version 1.0
Maintained Yes

Taxon


  • Primates
    • Homo sapiens

Maintainer


  • person_outline Marni Falk

Publication for the Mitochondrial Disease Sequence Data Resource Consortium

MSeqDR citations

 (4)
library_books

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione

2017
Oncotarget
PMCID: 5739687
PMID: 29285300
DOI: 10.18632/oncotarget.22413

[…] in defining other haplogroups nor was annotated in MitoMAP [], implying that it was novel, and had very low nucleotide variability (0.00031) as estimated in the HmtDB database [] and in the tracks of MSeqDR Mitochondrial Disease pathogenic mutation variant [].In the case of 8 variants with non-protein-coding events, 7 mapped in the MT-DLOOP region (, GM_noncodingproteins), which is a hot spot for […]

call_split

A comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs

2016
BMC Bioinformatics
PMCID: 5123245
PMID: 28185569
DOI: 10.1186/s12859-016-1193-4
call_split See protocol

[…] GBrowse instance at MSeqDR website [] allows visualization and analysis of variations and other genomics data in a classic genome browser interface by hosting mtDNA specific annotation tracks containing data from some of […]

library_books

A comprehensive characterization of rare mitochondrial DNA variants in neuroblastoma

2016
Oncotarget
PMCID: 5226504
PMID: 27351283
DOI: 10.18632/oncotarget.10271

[…] , insertions and deletions in mtDNA have been identified in multiple cancers [–]. Moreover, a recent worldwide effort by the mitochondrial community has resulted in the creation of a consortium named MSeqDR [], with the aim to collect, integrate, organize and critically analyze mitochondrial sequence data. Consequently, nuclear clinical databases together with genomic browsers may be used as a mol […]

library_books

Resources, challenges and way forward in rare mitochondrial diseases research

2015
F1000Res
PMCID: 4490798
PMID: 26180633
DOI: 10.5256/f1000research.6657.r8964

[…] .BDF0/Home.htm) along with the National Institute of Child Health and Human Development (NICHD) ( http://www.nichd.nih.gov/Pages/index.aspx) launched the Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium. The goals of this consortium is to facilitate deposition, curation, annotation and integrated analysis of genomic data for mitochondrial diseases for clinical and research communit […]

Citations

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MSeqDR institution(s)
Center for Personalized Medicine, Children’s Hospital Los Angeles, Los Angeles, CA, USA; Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA; Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, Bari, Italy; CEINGE-Biotecnologie Avanzate, Napoli, Italy; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA; The Genesis Project, Miami, FL, USA; Center for Biomedical Informatics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA; Center for Mitochondrial and Epigenomic Medicine, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA; Department of Forensic Molecular Biology, Erasmus MC–University Medical Center Rotterdam, Netherlands; Department of Pathology, The Children’s Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA; Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA; Division of Neurology, Department of Pediatrics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA; Department of Clinical Neurosciences, Cambridge Biomedical Campus, University of Cambridge, Cambridge, UK; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA

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