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MSeqDR ~ Accelerating Genomic Discovery in Mitochondrial Diseases

This is MSeqDR.org, the mtDNA and mitochondrial disease tool and data resource, using NGS and clinical data to do exome, genome and pathogenic variant interpretation.

http://www.mseqdr.org/

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MSeqDR ~ Accelerating Genomic Discovery in Mitochondrial Diseases | mseqdr.org Reviews
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MSeqDR ~ Accelerating Genomic Discovery in Mitochondrial Diseases | mseqdr.org Reviews

https://mseqdr.org

This is MSeqDR.org, the mtDNA and mitochondrial disease tool and data resource, using NGS and clinical data to do exome, genome and pathogenic variant interpretation.

INTERNAL PAGES

mseqdr.org mseqdr.org
1

MSeqDR Mitochondrial disease browser phenotype pathogenic gene and muatation portal

https://mseqdr.org/diag.php?8253;

A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. MSeqDR Mitochondrial Disease Portal. Choose a Mitochondrial Disease for the MSeqDR Annotations:. 1 201450 ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD. HP:16 ND:5 UMDF:1. 2 201470 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD. HP:19 ND:6 UMDF:1. 4 302060 BARTH SYNDROME; BTHS. HP:29 ND:5 UMDF:1. 16 516020 CYTOCHROME b OF COMPLEX III...

2

MSeqDR Central Portal

https://mseqdr.org/portal.php?dbsource=genomic&name=POLG

A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. MSeqDR Data Summary for the Term POLG:. Polymerase (DNA directed), gamma [Source:HGNC Symbol;Acc:9179]. MSeqDR Master Exome Data Set M1:. 248 entries from same gene. A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login.

3

MSeqDR- The annotated locus-specific database of pathogenic variants for mitochondrial diseases

https://mseqdr.org/mb.php?url=index.php

MSeqDR is developed by MSeqDR Consortium and hosted by the CHLA. About the webpages, contact MSeqDR webmaster.

4

MSeqDR - The central data resource for mitochondrial diseases

https://mseqdr.org/gbrowse_bridge.php

MSeqDR is developed by MSeqDR Consortium and hosted by the CHLA. About the webpages, contact MSeqDR webmaster.

5

ToMD Contents

https://mseqdr.org/data/tomd

1 data collection (re-processed transcriptome data sets). Link: https:/ mseqdr.org/data/tomd/1 data collection. Data Index: Index.xlsx. Description of all data sets included in the current ToMD). Annotation (gene annotation of 4 species) (Download). Description (GEO description of each data set) (Download). Expression (re-processed data matrix in tab-delimited format) (Download). Metadata (data set and sample description) (Download). R (individual data sets stored as R objects) (Download). Biclustering (...

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LINKS TO THIS WEBSITE

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DNA databases - ISOGG Wiki

http://www.isogg.org/wiki/DNA_databases

International Society of Genetic Genealogy Wiki. There are a number of public DNA databases. That can be used by the genetic genealogist. Some provide a facility for people to enter their DNA results and search for close or exact matches. Other databases are publicly searchable but it is not possible to input your own results. List of DNA databases. List of DNA databases. A worldwide forensic database of mtDNA control region haplotypes. Can upload their FMS results for comparison with other sequences.

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MSeqDR ~ Accelerating Genomic Discovery in Mitochondrial Diseases

UMDF'17 Regional Symposia St Louis. Exome Priori. Result. POLG Patho. Server. Data - Awsomics GeEx. Gene Panel Examiner V2. MSeqDR PhenoTips (Direct Link). A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: G" m.8993T G. C" 1:g.10042757T C. MSeqDR: the Mitochondrial Disease Sequence Data Resource Consortium. A global effort, 100 mitochondrial disease experts. Data for rare diseases. Patients and causative mutations. MSeqDr Exper...

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