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7.5 years ago
arpitagupta2993
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I am a CSE student doesn't know much about bioinfomatics but i am trying to make a mtdna mutation detection project can anyone help me with any idea how to do that???
Start by reading the literature involving detection of mitochondrial variants.
See these papers:
Mitochondria sequence mapping strategies and practicability of mitochondria variant detection from exome and RNA sequencing data
http://sci-hub.cc/10.1093/bib/bbv057#
Performance of mitochondrial DNA mutations detecting early stage cancer
http://bmccancer.biomedcentral.com/articles/10.1186/1471-2407-8-285
Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4272251/
But:
Mitochondrial DNA exhibits resistance to induced point and deletion mutations.
https://www.ncbi.nlm.nih.gov/pubmed/27550180
See also this posts:
Where can I download a list of mtDNA haplogroup mutations?
How To Get The Mutation List For Mtdna Complete Sequence Submitted In Genbank? - this one is rather old but may be useful
where can i get the mutated and non mutated dataset of mtdna ?? if you know other then ncbi there because mutated dataset is not available there
You can try here:
Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169240/
See Table S1.