MSeqDR mvTool

Use of Next-Generation Sequencing for Identifying Mitochondrial ...

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

Mitochondrial Medicine Publications

... MSeqDR mvTool: a Mitochondrial DNA Web and API Resource for Comprehensive Variant Annotation, Universal Nomenclature Collation, and Reference Genome Conversion.

Lishuang Shen (0000-0002-0436-0199) - ORCID

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

The genomic mosaic of mitochondrial dysfunction: Decoding nuclear ...

For variant analysis, we used mvTool from the MSeqDR infrastructure to support mtDNA nomenclatures, annotate novel variants, and provide updated population ...

Mitochondrial DNA variation across 56,434 individuals in gnomAD

MSeqDR mvTool: a mitochondrial DNA web and API resource for com- prehensive variant annotation, universal nomenclature collation, and reference genome ...

Investigation of Mitochondrial Related Variants in a Cerebral Small ...

... MSeqDR mvTool [19]. This software identified population allele frequency; disease phenotypes derived from HmtDB, MitoTIP, MSeqDR, and ...

Mitochondrial gene sequence variants in children with severe ...

Variant annotations were performed using MSeqDR: the Mitochondrial Disease Sequence Data Resource Consortium's tool called MvTool and ...

Bioinformatics Tools and Databases to Assess the Pathogenicity of ...

MSeqDR mvTool: a mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and ...

Lishuang Shen - Children's Hospital Los Angeles (CHLA) - LinkedIn

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

gnoMAD shares mtDNA variant data from 56,434 whole ... - MSeqDR

mvTool v.6: The mtDNA variant reference based on 316,530 whole genome sequences Preclinical Study Shows Combination of Vitamins, Supplements ...

Whole mitochondrial genome sequencing of Malaysian patients with ...

11), and Universal mtDNA Variant Converter and One Stop Annotation (mvTool v. ... MSeqDR mvTool: a mitochondrial DNA Web and API resource for ...

Mitochondrial Medicine 2019: Washington DC - UMDF

Background: MSeqDR (https://mseqdr.org) is a centralized genomic bioinformatics Web ... mvTool and Phy-Mer. We have also centralized access ...

Parkin-mediated mitophagy and autophagy flux disruption in cellular ...

The whole mitochondrial genome variants were annotated using mvTool from MSeqDR. In the case of control fibroblasts, any confirmed pathogenic variants were ...

A systematic review on the biochemical threshold of mitochondrial ...

MSeqDR mvTool: A mitochondrial DNA web and API resource for com- prehensive variant annotation, universal nomenclature collation, and.

Genome-wide analysis of mitochondrial DNA copy number reveals ...

All imputed variants were functionally annotated using MSe-. qDR mvTools (Shen et al. ... X (2018) MSeqDR mvTool: a mitochondrial DNA Web and. API ...

Association of mitochondrial DNA variation with high myopia in a ...

2.9 (Weissensteiner et al. 2016). Detailed variant annotation were obtained using the online tool, MSeqDR (https://mseqdr.org/mvtool.php). The ...

Uncovering the Dual Role of Mitochondrial and Nuclear ... - medRxiv

MSeqDR. 869. mvTool: A mitochondrial DNA Web and API resource for comprehensive variant. 870 annotation, universal nomenclature collation, and ...

The genomic mosaic of mitochondrial dysfunction

For variant analysis, we used mvTool from the MSeqDR infrastructure to support mtDNA nomenclatures, annotate novel variants, and provide ...

Mitochondrial Medicine 2019: Washington DC - UMDF

comprehensively annotating and analyzing mtDNA genome variants, namely MSeqDR-mvTool and Phy-. Mer. We have also centralized access to a ...

MSeqDR.org Variant Mapping and Annotation

We recommend running HGVS format check if the result is not as expected. mtDNA variants? Switch to mvTool - Universal mtDNA Variant Converter and One Stop ...