databases > DOI:10.25504/FAIRsharing.xUkfh7

ready Mitochondrial Disease Sequence Data Resource

Abbreviation:MSeqDR

General Information
The Mitochondrial Disease Sequence Data Resource (MSeqDR) is a centralized genome and phenome bioinformatics resource built by the mitochondrial disease community to facilitate clinical diagnosis and research investigations of individual patient phenotypes, genomes, genes, and variants. It integrates community knowledge from expert‐curated databases with genomic and phenotype data shared by clinicians and researchers.




How to cite this record FAIRsharing.org: MSeqDR; Mitochondrial Disease Sequence Data Resource; DOI: https://doi.org/10.25504/FAIRsharing.xUkfh7; Last edited: Feb. 13, 2020, 1:59 p.m.; Last accessed: Oct 22 2020 1:31 a.m.

Publication for citation  MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. Shen L, Diroma MA, Gonzalez M, Navarro-Gomez D, Leipzig J, Lott MT, van Oven M, Wallace DC, Muraresku CC, Zolkipli-Cunningham Z, Chinnery PF, Attimonelli M, Zuchner S, Falk MJ, Gai X; Hum Mutationm ; 2016; 10.1002/humu.22974;


This record is maintained by mseqdr  ORCID

Record added: Oct. 1, 2019, 1:52 p.m.
Record updated: Jan. 31, 2020, 10:20 a.m. by The FAIRsharing Team.

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MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.

Shen L, Diroma MA, Gonzalez M, Navarro-Gomez D, Leipzig J, Lott MT, van Oven M, Wallace DC, Muraresku CC, Zolkipli-Cunningham Z, Chinnery PF, Attimonelli M, Zuchner S, Falk MJ, Gai X
Hum Mutationm 2016

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MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion

Lishuang Shen, Marcella Attimonelli, Bai Renkui, Marie T Lott, Douglas C Wallace, Marni J Falk, Xiaowu Gai.
Human Mutation 2018

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Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.

Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry SF, Zhang Z, Copeland WC, van Oven M, Prokisch H, Wallace DC, Attimonelli M, Krotoski D, Zuchner S, Gai X; MSeqDR Consortium Participants; MSeqDR Consortium participants: Sherri Bale, Jirair Bedoyan, Doron Behar, Penelope Bonnen, Lisa Brooks, Claudia Calabrese, Sarah Calvo, Patrick Chinnery, John Christodoulou, Deanna Church,; Rosanna Clima, Bruce H. Cohen, Richard G. Cotton, IFM de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory Enns, Giuseppe Gasparre,; Amy Goldstein, Iris Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard H. Haas, Hakon Hakonarson, Michio Hirano, Douglas Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki,; Aurora Pujol, Melissa Parisi, Juan Carlos Perin, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Honey Reddi, Heidi Rehm, Erin Riggs, Richard Rodenburg, Yaffa Rubinstein, Russell Saneto, Mariangela Santorsola, Curt Scharfe,; Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne Wolfe, and Lee-Jun Wong
Mol Genet Metab 2015

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  • U24 HD093483‐01 (National Institutes of Health (NIH), Bethesda, MD, USA)

  • U41‐HG006834 (National Institutes of Health (NIH), Bethesda, MD, USA)

  • U54‐NS078059 (National Institutes of Health (NIH), Bethesda, MD, USA)