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With all probability, an important subset of pathogenic mtDNA variations map to the mt-rRNA genes; however, they remain the most difficult genes in which to confirm the pathogenicity of an mtDNA variant.
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The variations mapping to these GSVs may be among the causative mutations that have led to the phenotypic divergence between these two species.
The fourth category consists of 345 351 genomic variations mapped to lncRNAs.
A cluster comprising multiple assemblies indicates splicing variations mapped to the same genomic locus.
Five variants were not tested for effects on splice site alterations because the variations mapped to the first or last exon of the gene.
A total of 7873 variations mapped to regulatory regions annotated as per ChIP-seq data set obtained from (http://genome.tbdb.org/annotation/genome/tbdb/RegulatoryNetwork.html).html
HIA is used in this paper to analyze a subset of extremely rare variations mapping to the small ribosomal subunit (SSU) of the mitoribosome, which are suspected to be associated with a respiratory chain defect.
Our results show an RMSD of 2.4 Å for E2 ectodomain and 2.9 Å for E1 ectodomain, with the most variations mapped to the E1 fusion loop region (Supplementary Figure S3).
Among the variations mapped to gene regions, 74.4% of SNPs were found in introns, while the current gene models (KH models) predict that introns comprise 65.7% of gene regions.
Interval-specific single nucleotide polymorphism haplotype analysis for Civq1 results in 12 candidate genes.The extent of ischemic tissue damage after distal middle cerebral artery occlusion in inbred strains of mice is modulated by genetic variation mapping to at least 3 different loci.
Where variation maps to transcripts from both genesets we define the variant annotation as 'concordant'concordant
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