Mitochondrial Disease Sequence Data Resource
Names
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Mitochondrial Disease Sequence Data Resource
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:08 p.m.
MSeqDR
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:08 p.m.
Names
More detailed information about this field from each metasource.
Mitochondrial Disease Sequence Data Resource
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:08 p.m.
MSeqDR
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:08 p.m.
Names
More detailed information about this field from each metasource.
Mitochondrial Disease Sequence Data Resource
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:08 p.m.
MSeqDR
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:08 p.m.
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.
Description
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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.
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:08 p.m.
Webpage:
https://mseqdr.org/Webpage
More detailed information about this field from each metasource.
https://mseqdr.org/
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:08 p.m.
Publications:
Publications
More detailed information about this field from each metasource.
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
PMID: 25542617
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:08 p.m.
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease
PMID: 26919060
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:08 p.m.
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion
PMID: 29539190
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:08 p.m.
Publications
More detailed information about this field from each metasource.
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
PMID: 25542617
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:08 p.m.
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease
PMID: 26919060
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:08 p.m.
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion
PMID: 29539190
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:08 p.m.
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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
PubMed citations: 31.
31 articles citing: 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
Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders. PMID:35723297
Best practices for the interpretation and reporting of clinical whole genome sequencing. PMID:35395838
From Forensics to Clinical Research: Expanding the Variant Calling Pipeline for the Precision ID mtDNA Whole Genome Panel. PMID:34769461
Mitochondrial DNA variation and cancer. PMID:34045735
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. PMID:32906214
The North American mitochondrial disease registry. PMID:32601614
Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons. PMID:32503625
Advances in primary mitochondrial myopathies. PMID:31408013
First Responder to Genomic Information: A Guide for Primary Care Providers. PMID:31172371
Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method. PMID:30406974
Mitochondrial Genomics: A complex field now coming of age. PMID:30386685
HmtVar: a new resource for human mitochondrial variations and pathogenicity data. PMID:30371888
Potential for Mitochondrial DNA Sequencing in the Differential Diagnosis of Gynaecological Malignancies. PMID:30011887
The Complex Interaction of Mitochondrial Genetics and Mitochondrial Pathways in Psychiatric Disease. PMID:29998118
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion. PMID:29539190
Bridging two scholarly islands enriches both: COI DNA barcodes for species identification versus human mitochondrial variation for the study of migrations and pathologies. PMID:28725363
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database. PMID:28480171
A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations. PMID:28295037
hsa-miR-4485 regulates mitochondrial functions and inhibits the tumorigenicity of breast cancer cells. PMID:28220193
A comprehensive collection of annotations to interpret sequence variation in human mitochondrial transfer RNAs. PMID:28185569
HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor. PMID:27899581
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. PMID:27858754
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base. PMID:27665271
New insights in Rett syndrome using pathway analysis for transcriptomics data. PMID:27517371
A comprehensive characterization of rare mitochondrial DNA variants in neuroblastoma. PMID:27351283
From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases. PMID:27148591
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. PMID:26919060
PGC-1α regulates the cell cycle through ATP and ROS in CH1 cells. PMID:26834014
A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest. PMID:26621530
Innovative genomic collaboration using the GENESIS (GEM.app) platform. PMID:26173844
Emerging aspects of treatment in mitochondrial disorders. PMID:25962587 -
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease
PubMed citations: 23.
23 articles citing: MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease
Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders. PMID:35723297
The mining and construction of a knowledge base for gene-disease association in mitochondrial diseases. PMID:34903783
MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data. PMID:34762648
New Insights Into Mitochondrial DNA Reconstruction and Variant Detection in Ancient Samples. PMID:33679884
Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline. PMID:33233726
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. PMID:32906214
The North American mitochondrial disease registry. PMID:32601614
Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease. PMID:32439066
Impact of mitochondrial DNA mutations in multiple myeloma. PMID:32358481
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases. PMID:30763462
Mitochondrial Genomics: A complex field now coming of age. PMID:30386685
Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease. PMID:30199403
Endocrine Disorders in Primary Mitochondrial Disease. PMID:29594260
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion. PMID:29539190
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione. PMID:29285300
MiSynPat: An integrated knowledge base linking clinical, genetic, and structural data for disease-causing mutations in human mitochondrial aminoacyl-tRNA synthetases. PMID:28608363
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database. PMID:28480171
Intraflagellar transport 88 (IFT88) is crucial for craniofacial development in mice and is a candidate gene for human cleft lip and palate. PMID:28069795
The Human Phenotype Ontology in 2017. PMID:27899602
HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor. PMID:27899581
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base. PMID:27665271
The process of mammalian mitochondrial protein synthesis. PMID:27411691
From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases. PMID:27148591 -
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion
PubMed citations: 14.
14 articles citing: MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion
Use of Next-Generation Sequencing for Identifying Mitochondrial Disorders. PMID:35723297
Whole mitochondrial genome sequencing of Malaysian patients with cardiomyopathy. PMID:35441061
Mitochondrial DNA variation across 56,434 individuals in gnomAD. PMID:35074858
Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. PMID:34859289
Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome. PMID:33450921
Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline. PMID:33233726
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. PMID:32906214
Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease. PMID:32439066
Polymorphisms in the Mitochondrial Genome Are Associated With Bullous Pemphigoid in Germans. PMID:31824475
Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge. PMID:31680375
First Responder to Genomic Information: A Guide for Primary Care Providers. PMID:31172371
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases. PMID:30763462
Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing. PMID:30619459
Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease. PMID:30199403
Tags:
Tags
More detailed information about this field from each metasource.
diagnosis
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:08 p.m.
disease
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:08 p.m.
mitochondrial disease
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:08 p.m.
mitochondrial sequence
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:08 p.m.
mitochondrion
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:08 p.m.
sequence variant
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:08 p.m.
region
metasource: Fairsharing.org
version: 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: Jan 03 2022 7:08 p.m.
Tags
More detailed information about this field from each metasource.
diagnosis
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:08 p.m.
disease
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:08 p.m.
mitochondrial disease
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:08 p.m.
mitochondrial sequence
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:08 p.m.
mitochondrion
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:08 p.m.
sequence variant
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:08 p.m.
region
metasource: Fairsharing.orgversion: 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: Jan 03 2022 7:08 p.m.
diagnosis disease mitochondrial disease mitochondrial sequence mitochondrion sequence variant region
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