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.

Homepage https://mseqdr.org/

Countries that developed this resource Italy , Netherlands , United Kingdom , United States

Created in 2016

Taxonomic range

Homo sapiens

Knowledge Domains

Subjects

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: Sep 30 2020 11:34 p.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.

Show edit history

Edits to 'https://fairsharing.org/FAIRsharing.xUkfh7' by 'The FAIRsharing Team' at 10:20, 31 Jan 2020 (approved):

	'organizations' has been modified:
		Before:
			Children's Hospital Los Angeles, United States|https://www.chla.org|Maintains
		After:
			Children's Hospital Los Angeles, United States|https://www.chla.org|Maintains
			United Mitochondrial Disease Foundation|https://www.umdf.org/|Funds
			Netherlands Genomic Initiative|https://www.wur.nl/en/show/Wageningen-Genomics-Facility-Overview.htm|Maintains
			Netherlands Organization for Scientific Research|https://www.nwo.nl/en|Funds
			 National Institutes of Health (NIH), Bethesda, MD, USA|https://www.nih.gov/|Funds
		Added:
			United Mitochondrial Disease Foundation|https://www.umdf.org/|Funds
			Netherlands Genomic Initiative|https://www.wur.nl/en/show/Wageningen-Genomics-Facility-Overview.htm|Maintains
			Netherlands Organization for Scientific Research|https://www.nwo.nl/en|Funds
			 National Institutes of Health (NIH), Bethesda, MD, USA|https://www.nih.gov/|Funds
		Removed:

	'contactORCID' has been modified:
		Before: 
		After: 0000-0002-1723-6728

	'onto_disciplines' has been modified:
		Before:
			Genomics
			Medicine
			Phenomics
		After:
			Biomedical Science
			Genomics
			Medicine
			Phenomics
		Added:
			Biomedical Science
		Removed:

	'dataProcesses' has been modified:
		Before:
			Search by disease, phenotype, variant HGVS, MSCV, gene
			Browse by disease 
			Submit
		After:
			Search by disease, phenotype, variant HGVS, MSCV, gene
			Browse by disease 
			Submit
			MSeqDR Human Phenotype Ontology  Browser
		Added:
			MSeqDR Human Phenotype Ontology  Browser
		Removed:

	'contact' has been modified:
		Before: Marni J. Falk, 
		After: Marni J. Falk

	'grants' has been modified:
		Before:
		After:
			U24 HD09348301
			U41HG006834
			U54NS078059
		Added:
			U24 HD09348301
			U41HG006834
			U54NS078059
		Removed:

	'tools' has been modified:
		Before:
			MSeqDR Mitochondrial Disease Portal|2.0|https://mseqdr.org/diag.php
			Mitochondrial Toolbox List||https://mseqdr.org/mitobox.php
			mvTool  - Universal mtDNA Variant Converter and One Stop Annotation|3.0|https://mseqdr.org/mvtool.php
			MSeqDR Human Phenotype Ontology  Browser|3.0|https://mseqdr.org/hpo_browser.php
			mvTool for PhyloTree and Haplogroup, Universal mtDNA Variant Converter and One Stop Annotation|1.0|https://mseqdr.org/mv4phylotree.php
			Leigh and Leigh-Like Syndrome (LS/LLS) Resources at MSeqDR.org|1.0|https://mseqdr.org/leigh.php
			MSeqDR Quick-Mitome - A Phenotype-Guided WES/WGS Variant Interpretation Server for Mitochondrial Diseases|2.0|https://mseqdr.org/quickmitome.php
			MSeqDR-LDSB: Expert-curated database of 280 mitochondrial diseases and  15,000 pathogenicity-assessed variants|5.0|https://mseqdr.org/MITO/index.php
		After:
			Mitochondrial Toolbox List||https://mseqdr.org/mitobox.php
			mvTool  - Universal mtDNA Variant Converter and One Stop Annotation|3.0|https://mseqdr.org/mvtool.php
			mvTool for PhyloTree and Haplogroup, Universal mtDNA Variant Converter and One Stop Annotation|1.0|https://mseqdr.org/mv4phylotree.php
			Leigh and Leigh-Like Syndrome (LS/LLS) Resources at MSeqDR.org|1.0|https://mseqdr.org/leigh.php
			MSeqDR Quick-Mitome - A Phenotype-Guided WES/WGS Variant Interpretation Server for Mitochondrial Diseases|2.0|https://mseqdr.org/quickmitome.php
			MSeqDR-LDSB: Expert-curated database of 280 mitochondrial diseases and  15,000 pathogenicity-assessed variants|5.0|https://mseqdr.org/MITO/index.php
		Added:
		Removed:
			MSeqDR Mitochondrial Disease Portal|2.0|https://mseqdr.org/diag.php
			MSeqDR Human Phenotype Ontology  Browser|3.0|https://mseqdr.org/hpo_browser.php

Edits to 'https://fairsharing.org/FAIRsharing.xUkfh7' by 'mseqdr' at 16:34, 19 Dec 2019 (approved):

	'contact' has been modified:
		Before: Marni J. Falk
		After: Marni J. Falk, 

	'tools' has been modified:
		Before:
			MSeqDR Mitochondrial Disease Portal|2.0|https://mseqdr.org/diag.php
			Mitochondrial Toolbox List||https://mseqdr.org/mitobox.php
			mvTool  - Universal mtDNA Variant Converter and One Stop Annotation|3.0|https://mseqdr.org/mvtool.php
			MSeqDR Human Phenotype Ontology  Browser|3.0|https://mseqdr.org/hpo_browser.php
			mvTool for PhyloTree and Haplogroup, Universal mtDNA Variant Converter and One Stop Annotation|1.0|https://mseqdr.org/mv4phylotree.php
			Leigh and Leigh-Like Syndrome (LS/LLS) Resources at MSeqDR.org|1.0|https://mseqdr.org/leigh.php
			MSeqDR Quick-Mitome - A Phenotype-Guided WES/WGS Variant Interpretation Server for Mitochondrial Diseases|2.0|https://mseqdr.org/quickmitome.php
			MSeqDR-LDSB: Expert-curated database of 280 mitochondrial diseases and  15,000 pahogenicity-assessed variants|5.0|https://mseqdr.org/MITO/index.php
		After:
			MSeqDR Mitochondrial Disease Portal|2.0|https://mseqdr.org/diag.php
			Mitochondrial Toolbox List||https://mseqdr.org/mitobox.php
			mvTool  - Universal mtDNA Variant Converter and One Stop Annotation|3.0|https://mseqdr.org/mvtool.php
			MSeqDR Human Phenotype Ontology  Browser|3.0|https://mseqdr.org/hpo_browser.php
			mvTool for PhyloTree and Haplogroup, Universal mtDNA Variant Converter and One Stop Annotation|1.0|https://mseqdr.org/mv4phylotree.php
			Leigh and Leigh-Like Syndrome (LS/LLS) Resources at MSeqDR.org|1.0|https://mseqdr.org/leigh.php
			MSeqDR Quick-Mitome - A Phenotype-Guided WES/WGS Variant Interpretation Server for Mitochondrial Diseases|2.0|https://mseqdr.org/quickmitome.php
			MSeqDR-LDSB: Expert-curated database of 280 mitochondrial diseases and  15,000 pathogenicity-assessed variants|5.0|https://mseqdr.org/MITO/index.php
		Added:
			MSeqDR-LDSB: Expert-curated database of 280 mitochondrial diseases and  15,000 pathogenicity-assessed variants|5.0|https://mseqdr.org/MITO/index.php
		Removed:
			MSeqDR-LDSB: Expert-curated database of 280 mitochondrial diseases and  15,000 pahogenicity-assessed variants|5.0|https://mseqdr.org/MITO/index.php

Edits to 'https://fairsharing.org/FAIRsharing.xUkfh7' by 'mseqdr' at 16:28, 19 Dec 2019 (approved):

	'publications' has been modified:
		Before:
			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
		After:
			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
			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
			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
		Added:
			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
			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
		Removed:

	'dataProcesses' has been modified:
		Before:
			Browse by Gene
			Search by Disease, phenotyepe, variant HGVS, MSCV
			Submit
		After:
			Search by disease, phenotype, variant HGVS, MSCV, gene
			Browse by disease 
			Submit
		Added:
			Search by disease, phenotype, variant HGVS, MSCV, gene
			Browse by disease 
		Removed:
			Browse by Gene
			Search by Disease, phenotyepe, variant HGVS, MSCV

Edits to 'https://fairsharing.org/FAIRsharing.xUkfh7' by 'mseqdr' at 16:19, 19 Dec 2019 (approved):

	'tools' has been modified:
		Before:
			MSeqDR Mitochondrial Disease Portal|2.0|https://mseqdr.org/diag.php
			Mitochondrial Toolbox List||https://mseqdr.org/mitobox.php
			mvTool  - Universal mtDNA Variant Converter and One Stop Annotation|3.0|https://mseqdr.org/mvtool.php
			MSeqDR Human Phenotype Ontology  Browser|3.0|https://mseqdr.org/hpo_browser.php
			mvTool for PhyloTree and Haplogroup, Universal mtDNA Variant Converter and One Stop Annotation|1.0|https://mseqdr.org/mv4phylotree.php
			Leigh and Leigh-Like Syndrome (LS/LLS) Resources at MSeqDR.org|1.0|https://mseqdr.org/leigh.php
		After:
			MSeqDR Mitochondrial Disease Portal|2.0|https://mseqdr.org/diag.php
			Mitochondrial Toolbox List||https://mseqdr.org/mitobox.php
			mvTool  - Universal mtDNA Variant Converter and One Stop Annotation|3.0|https://mseqdr.org/mvtool.php
			MSeqDR Human Phenotype Ontology  Browser|3.0|https://mseqdr.org/hpo_browser.php
			mvTool for PhyloTree and Haplogroup, Universal mtDNA Variant Converter and One Stop Annotation|1.0|https://mseqdr.org/mv4phylotree.php
			Leigh and Leigh-Like Syndrome (LS/LLS) Resources at MSeqDR.org|1.0|https://mseqdr.org/leigh.php
			MSeqDR Quick-Mitome - A Phenotype-Guided WES/WGS Variant Interpretation Server for Mitochondrial Diseases|2.0|https://mseqdr.org/quickmitome.php
			MSeqDR-LDSB: Expert-curated database of 280 mitochondrial diseases and  15,000 pahogenicity-assessed variants|5.0|https://mseqdr.org/MITO/index.php
		Added:
			MSeqDR Quick-Mitome - A Phenotype-Guided WES/WGS Variant Interpretation Server for Mitochondrial Diseases|2.0|https://mseqdr.org/quickmitome.php
			MSeqDR-LDSB: Expert-curated database of 280 mitochondrial diseases and  15,000 pahogenicity-assessed variants|5.0|https://mseqdr.org/MITO/index.php
		Removed:

Edits to 'https://fairsharing.org/FAIRsharing.xUkfh7' by 'mseqdr' at 16:07, 19 Dec 2019 (approved):

	'supportLinks' has been modified:
		Before:
			blog|https://mseqdr.org/news.php
			contact form|https://mseqdr.org/feedback.php
			email|xgai@chla.usc.edu
			online documentation|https://mseqdr.org/documentation.php
			online documentation|https://mseqdr.org/tutorial.php
		After:
			blog|https://mseqdr.org/news.php
			contact form|https://mseqdr.org/feedback.php
			email|xgai@chla.usc.edu
			email|lshen86@gmail.com
			online documentation|https://mseqdr.org/documentation.php
			online documentation|https://mseqdr.org/tutorial.php
		Added:
			email|lshen86@gmail.com
		Removed:

	'tools' has been modified:
		Before:
			GBrowse||https://mseqdr.org/gbrowse_bridge.php
			Mitochondrial Toolbox List||https://mseqdr.org/mitobox.php
			mvTool  - Universal mtDNA Variant Converter and One Stop Annotation|3.0|https://mseqdr.org/mvtool.php
			MSeqDR Human Phenotype Ontology  Browser|3.0|https://mseqdr.org/hpo_browser.php
			mvTool for PhyloTree and Haplogroup, Universal mtDNA Variant Converter and One Stop Annotation|1.0|https://mseqdr.org/mv4phylotree.php
			Leigh and Leigh-Like Syndrome (LS/LLS) Resources at MSeqDR.org|1.0|https://mseqdr.org/leigh.php
		After:
			MSeqDR Mitochondrial Disease Portal|2.0|https://mseqdr.org/diag.php
			Mitochondrial Toolbox List||https://mseqdr.org/mitobox.php
			mvTool  - Universal mtDNA Variant Converter and One Stop Annotation|3.0|https://mseqdr.org/mvtool.php
			MSeqDR Human Phenotype Ontology  Browser|3.0|https://mseqdr.org/hpo_browser.php
			mvTool for PhyloTree and Haplogroup, Universal mtDNA Variant Converter and One Stop Annotation|1.0|https://mseqdr.org/mv4phylotree.php
			Leigh and Leigh-Like Syndrome (LS/LLS) Resources at MSeqDR.org|1.0|https://mseqdr.org/leigh.php
		Added:
			MSeqDR Mitochondrial Disease Portal|2.0|https://mseqdr.org/diag.php
		Removed:
			GBrowse||https://mseqdr.org/gbrowse_bridge.php

	'publications' has been modified:
		Before:
			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 Mutat|2016
		After:
			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
		Added:
			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
		Removed:
			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 Mutat|2016

	'dataProcesses' has been modified:
		Before:
			Browse by Gene
			Browse by Disease
			Submit
		After:
			Browse by Gene
			Search by Disease, phenotyepe, variant HGVS, MSCV
			Submit
		Added:
			Search by Disease, phenotyepe, variant HGVS, MSCV
		Removed:
			Browse by Disease

Edits to 'https://fairsharing.org/FAIRsharing.xUkfh7' by 'mseqdr' at 15:59, 19 Dec 2019 (approved):

	'tools' has been modified:
		Before:
			GBrowse||https://mseqdr.org/gbrowse_bridge.php
			Mitochondrial Toolbox List||https://mseqdr.org/mitobox.php
		After:
			GBrowse||https://mseqdr.org/gbrowse_bridge.php
			Mitochondrial Toolbox List||https://mseqdr.org/mitobox.php
			mvTool  - Universal mtDNA Variant Converter and One Stop Annotation|3.0|https://mseqdr.org/mvtool.php
			MSeqDR Human Phenotype Ontology  Browser|3.0|https://mseqdr.org/hpo_browser.php
			mvTool for PhyloTree and Haplogroup, Universal mtDNA Variant Converter and One Stop Annotation|1.0|https://mseqdr.org/mv4phylotree.php
			Leigh and Leigh-Like Syndrome (LS/LLS) Resources at MSeqDR.org|1.0|https://mseqdr.org/leigh.php
		Added:
			mvTool  - Universal mtDNA Variant Converter and One Stop Annotation|3.0|https://mseqdr.org/mvtool.php
			MSeqDR Human Phenotype Ontology  Browser|3.0|https://mseqdr.org/hpo_browser.php
			mvTool for PhyloTree and Haplogroup, Universal mtDNA Variant Converter and One Stop Annotation|1.0|https://mseqdr.org/mv4phylotree.php
			Leigh and Leigh-Like Syndrome (LS/LLS) Resources at MSeqDR.org|1.0|https://mseqdr.org/leigh.php
		Removed:

In Collections

RDA Covid-19 WG Resources

Support

General

blog	News
contact form	Feedback Form
support email	Xiaowu Gai
support email	Lishuang Shen, Bioinformatician
online documentation	All Documentation
online documentation	Tutorials

Additional Information

Contact

Marni J. Falk ORCID

Tools

Mitochondrial Toolbox List	https://mseqdr.org/mitobox.php
mvTool - Universal mtDNA Variant Converter and One Stop Annotation	https://mseqdr.org/mvtool.php	3.0
mvTool for PhyloTree and Haplogroup, Universal mtDNA Variant Converter and One Stop Annotation	https://mseqdr.org/mv4phylotree.php	1.0
Leigh and Leigh-Like Syndrome (LS/LLS) Resources at MSeqDR.org	https://mseqdr.org/leigh.php	1.0
MSeqDR Quick-Mitome - A Phenotype-Guided WES/WGS Variant Interpretation Server for Mitochondrial Diseases	https://mseqdr.org/quickmitome.php	2.0
MSeqDR-LDSB: Expert-curated database of 280 mitochondrial diseases and 15,000 pathogenicity-assessed variants	https://mseqdr.org/MITO/index.php	5.0

Access / Retrieve Data

Conditions of Use

Data Curation

Submit

https://mseqdr.org/submission.php

Data Access

Search by disease, phenotype, variant HGVS, MSCV, gene	https://mseqdr.org/
Browse by disease	https://mseqdr.org/diag.php
MSeqDR Human Phenotype Ontology Browser	https://mseqdr.org/hpo_browser.php

Publications

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

View Paper (PubMed) View Publication

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

View Paper (PubMed) View Publication

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

View Paper (PubMed) View Publication

Related Standards

Reporting Guidelines

No guidelines defined

Terminology Artifacts

Models and Formats

No syntax standards defined

Identifier Schemas

No identifier schema standards defined

Metrics

No metrics standards defined

Related Databases

ClinVar

Implementing Policies

This record is not implemented by any policy.

Credit

Record Maintainer

This record is maintained by mseqdr ORCID

Funds

United Mitochondrial Disease Foundation (Charitable foundation)
Netherlands Organization for Scientific Research (Research institute)
National Institutes of Health (NIH), Bethesda, MD, USA (Government body)

Maintains

Children's Hospital Los Angeles, United States (Research institute) Lead
Netherlands Genomic Initiative (Research institute)

Grant Number(s)

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)

Mitochondrial Disease Sequence Data Resource

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