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We in our lab used your tool to annotate full-genome sequencing samples and found that the mitochondrial gene names do not match the databases. Specifically, we found this on one of the variants that has an incorrectly annotated gene (highlighted in the screenshot).
Hello, OpenCRAVAT team!
We in our lab used your tool to annotate full-genome sequencing samples and found that the mitochondrial gene names do not match the databases. Specifically, we found this on one of the variants that has an incorrectly annotated gene (highlighted in the screenshot).
The Franklin database identifies the MT-TL1 gene at this position, while the annotation proposed by the Mitomap module identifies the MT-TI gene.
https://franklin.genoox.com/clinical-db/variant/snp/chrM-3243-A-G-hg38
Also, the OMIM database provides the following characterization of genes:
https://www.omim.org/entry/590045
https://www.omim.org/entry/590050
We used the standard bash command:
oc run [file path] -l hg38 -a mitomap
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