Please note that the HmtDB web address has changed! The correct address is http:/ www.hmtdb.uniba.it, without the trailing /hmdb/. HmtDB is a Human Mitochondrial Genomic Resource. Based on Variability Studies,. Supporting Population Genetics and Biomedical Research. Total number of genomes: 35942.
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HmtDB - Human Mitochondrial Database | hmtdb.uniba.it Reviews
https://hmtdb.uniba.it
Please note that the HmtDB web address has changed! The correct address is http:/ www.hmtdb.uniba.it, without the trailing /hmdb/. HmtDB is a Human Mitochondrial Genomic Resource. Based on Variability Studies,. Supporting Population Genetics and Biomedical Research. Total number of genomes: 35942.
MSeqDR tools for mitochondrial diseases
https://mseqdr.org/mitobox.php
A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. Mitochondrial Genomic Tools and Databases. MSeqDR is Collaborating with the Community to Bring Together Established Tools. Phenome Portal: Mitochondrial Diseases, Phenotypes, Tools and Databases. All MSeqDR data linked to the disease in a single place. Browse and traversing human phenotype ontology tree. Mitochondrial DNA and nuclear DNA Variant Tools:. MvToo...
MToolBox Pipeline @ MSeqDR
https://mseqdr.org/mtoolbox.php
A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. MToolBox Pipeline @ MSeqDR. Option 1: Copy and Paste Your FASTA Input Here. Option 2: Upload Input File. Drag and Drop fasta (single sequence fasta only), fastq, fastq.gz, bam, sam file here, file size up to 50MB. Check Samples to Analyze:. 1 2016-08-26-02-50-2467 input.fasta. 2 data88.sorted.bam. 5 2016-08-13-21-19-6985 input.fasta. 10,217.2 KB. 300,630....
MSeqDR/GEM.app Tutorial at UMDF Mitochondrial Medicine 2015
https://mseqdr.org/umdf15.php
A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. MSeqDR/GEM.app Tutorial at UMDF Mitochondrial Medicine 2015. Over 50 clinicians, scientists and genetic counselors, from over worldwide institutes and hospitals, attended the workshop. Please send us your comments by filling out the Online Survey. Thank you for your time and participation! The MSeqDR-GEM.app-GeneMatcher team.
MSeqDR Tutorials and Examples
https://mseqdr.org/tutorial.php
A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. MSeqDR Tutorials and Examples. The first paper describing the MSeqDR Project is accepted for publication: Pubmed 25542617. Mol Genet Metab. 2014 Dec 4. pii: S1096-7192(14)00377-1. doi: 10.1016/j.ymgme.2014.11.016. Introduction to using MSeqDR: swf. Format. Tutorial was prepared by Dr. Marni Falk, 20 min. Hands-on exercises and walk throughs. About the webpage...
MSeqDR Data and Project List
https://mseqdr.org/data.php
A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. MSeqDR Data and Project List. 1 Transcriptome of mitochondrial dysfunctions ToMD. Integrative analysis of independent transcriptome data for rare diseases. The tool is developed by Drs. Zhe Zhang and Marni Falk at CHOP. MSeqDR is developed by MSeqDR Consortium and hosted by the CHLA. About the webpages, contact MSeqDR webmaster.
MSeqDR Documentation
https://mseqdr.org/documentation.php
A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. Data Capture from collaborators and public sources. Joint genomic feature search and visualization. Mitochondrial diseases, pathogenic variants, genes and phenotypes. Account and data access management. HBCR variant annotation HBCR. At Center for Mitochondrial and Epigenomic Medicine. Manually curated by Marie Lott. Of the Center for Biomedical Informatics.
Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier @ MSeqDR
https://mseqdr.org/phymer.php
A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. Phy-Mer: Mitochondrial haplogroup classifier @ MSeqDR. Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier. It supports input in fasta (single or multiple), single sample fastq, bam, csv formats. Option 1: Copy and Past Your Input Below. Notice me when finished. Option 2: Upload Input File. 13 sequence2.fasta - 16...
MSeqDR- The annotated locus-specific database of pathogenic variants for mitochondrial diseases
https://mseqdr.org/mb.php?url=genes.php
MSeqDR is developed by MSeqDR Consortium and hosted by the CHLA. About the webpages, contact MSeqDR webmaster.
MSeqDR.org Variant Mapping and Annotation
https://mseqdr.org/variant.php
A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. One Stop Variant Mapping and Annotation. A nAARS2:c.1774C T n8:g.10480578C T nNM 178857.5:c.134G A nm.13513G A n19:g.54621653 54621662del"/. Check new variant entry. To check a new variant entry, press "Annotate" button. We recommend running HGVS format check. If the result is not as expected. MSeqDR is developed by MSeqDR Consortium and hosted by the CHLA.
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HmtDB - Human Mitochondrial Database
Please note that the HmtDB web address has changed! The correct address is http:/ www.hmtdb.uniba.it, without the trailing /hmdb/. HmtDB is a Human Mitochondrial Genomic Resource. Based on Variability Studies,. Supporting Population Genetics and Biomedical Research. Total number of genomes: 35942.
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