Human mitochondrial reference genome
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3 months ago

I was searching for human mitochondrial reference genome but i didn't find it. Please tell me where i can find it? Is it available somewhere or not?

reference genome mitochondria • 529 views
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3 months ago
ATpoint 80k

It's included as "chrM" or "MT" in the "normal" reference genomes such as hg38 that you can get from Ensembl or GENCODE.

For example https://ftp.ensembl.org/pub/release-110/fasta/homo_sapiens/dna/ -- use Homo_sapiens.GRCh38.dna.chromosome.MT.fa.gz

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3 months ago

https://docs.varsome.com/en/mito-genome-versions

The standard mitochondrial genome is the revised Cambridge Reference Sequence (rCRS), GenBank number: NC_012920.1. This is the mitochondrial sequence included in the hg38 human genome. However, the older hg19 genome contains NC_001807.4 instead.

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Also, check out MITOMAP. There, you will find all the information about the chrM, including references, haplotypes, methods, and tools.

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From where i can get annotation file for mitochondrial reference genome NC_012920.1

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