ncbi.nlm.nih.gov
Carriers of Mitochondrial DNA Macrohaplogroup N Lineages Reached Australia around 50,000 Years Ago following a Northern Asian Route
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4460043
Skip to main content. Sign in to NCBI. US National Library of Medicine. National Institutes of Health. 2015; 10(6): e0129839. Published online 2015 Jun 8. Doi: 10.1371/journal.pone.0129839. Carriers of Mitochondrial DNA Macrohaplogroup N Lineages Reached Australia around 50,000 Years Ago following a Northern Asian Route. Jose M. Larruga. Khaled K. Abu-Amero. And Ana M. González. Francesc Calafell, Academic Editor. Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
mseqdr.org
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...
mseqdr.org
MSeqDR and Genomic Discovery in Mitochondrial Disease News and Progress
https://mseqdr.org/news.php
A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. MSeqDR News and Progress in Genomic Discovery in Mitochondrial Disease. MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease Hum Mutat. 2016 Jun;37(6):540-8. doi: 10.1002/humu.22974. Epub 2016 Mar 21. COMMENTARY: From case studies to community knowledge base: MSeqDR. Find out ...
mseqdr.org
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.org
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.org
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...
haplogrep.uibk.ac.at
mtDNA-KnowledgeBase | Analyzing the human mitochondrial genome
http://haplogrep.uibk.ac.at/blog
HaploGrep2 Update 2.1.0. August 10, 2016. August 10, 2016. We just updated HaploGrep2, with the following minor points:. The Export of the Extended Report (Export / Haplogroup Extendet (txt) got extended with the “Found Polys” – see Describtion below:. The Report for the potential Phantom Mutations got corrected, so that positions with bases according the rCRS reference are not listed anymore. Report of the possible Recombinations based now on Hamming Distance instead of Kulczynksi-Distance. 8211; Varian...