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Similarly, since many mitochondrial variants are missense variants, evidence criteria for truncating variants will likely not be helpful.
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Association with individual mitochondrial variants was assessed using Fishers Exact test.
Many genes involved in mitochondrial functions were down-regulated and utltrastructural observations revealed many mitochondrial disorders.
This dataset excludes mitochondrial variants, as SuRFR has been trained on nuclear, not mitochondrial, variants and relies heavily on functional data that are not applicable to mitochondrial variants (most notably, histone modifications and DNase HS data).
Consideration should be given to testing nuclear genes associated with mitochondrial disorders, as variants in nuclear genes could be causative of oxidative disorders or modulating the mitochondrial variants.
Pairwise comparison of blood and tumor mtDNA variants was performed to identify germline and tumor-specific mitochondrial variants.
We compiled 128 variants (excluding mitochondrial variants) catalogued in the ClinVar archive (sourced from the GWAVA website [ 39]) into a known disease variant set.
They concluded that inherited mitochondrial variants are not a major factor in ARHI [ 53].
Further, mitochondrial variants were only analyzed if they were identified in 10 reads or more.
Previously, cytosolic and mitochondrial variants derived from a single gene were described in E. granulosus [ 11].
This germline bottleneck explains the rapid segregation of mitochondrial variants across generations.
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