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  1. ...-mRNA processing, or impair mt-mRNA degradation/turnover pathways. Effects of chimeric mtRNAs on protein translation could include the sequestration of ribosomes and tRNAs on these aberrant transcripts. Chimeric mtRNAs could also bind other mtRNA transcripts or even leak into the cytoplasm (Kim et al. 2017...
  2. ...-mer in the Hamming ball and a k-mer in the outer orbits. Hence, we choose as the rough boundary.These transformations try to mitigate the intrinsic conflicts between Hamming distance and Euclidean distance. As shown in Figure 2A, all six k-mers have exactly one mutation from the consensus sequence, so we arrange...
  3. .... Experimental overview of the CRX deep mutational scan. (A) Known CRX domains, sequence conservation, predicted disorder, and reported ClinVar missense variants. Per-residue conservation was computed using sequences from the UniProt UniRef50 cluster derived from human CRX. Disorder predicted with Metapredict...
  4. ...genomics and phylogeny analyses identified regions of organismal s that show patterns of accelerated evolution (Ferris et al. 2018; Foley et al. 2023). The usage of mutation rate patterns, species sequence alignments, and the identification of highly conserved regions can provide insights into phenotypic...
  5. ...is composed of GLC7, YER134C, GDI1, YER137C, and the transposon genes YER137C-A and YER138C. These genes are not significantly enriched in any functions. Unlike GAP1 CNVs, the GLC7-YER137C CNV is significantly enriched in tRNAs as it contains extra copies of tRNA-His, tRNA-Ile, tRNA-Lys, and tRNA...
  6. ...identifying a single consensus sequence might be more meaningful, EquiRep may have limited utility. For moderately long repeats (10–200 bp) found in telomeric or centromeric regions, as well as coding repeats like those in CEL or MUC1, a more defined repeat structure exists, and mutations within the repeat...
  7. ...in higher eukaryotes, and mutations causing dysregulated splicing underlie a range of genetic diseases. Computational prediction of alternative splicing from genomic sequences not only provides insight into gene-regulatory mechanisms but also helps identify disease-causing mutations and drug targets...
  8. ...-induced misincorporation tRNA sequencing), an RNA-seq pipeline designed for tRNA analysis (Behrens et al. 2021), in our study of tsRNAs in Drosophila melanogaster. The library construction step of this pipeline includes necessary measures to minimize tRNA modifications that can hinder effective detection and quantitation...
  9. ...the impact of chimerism on transcriptional output.Differentially targeted regions are marked by DNA sequence and regulatory variationSince EWS–FLI and FLI1 binding sites were mostly distinct, we hypothesized that additional factors might specify EWS–FLI or FLI1 targeting in a transcription factor– or cell...
  10. ...motif, which is preferentially located near the 3′ end of Alu repeats. The sequence hotspot is observed irrespective of the tethering of the HIV preintegration complex to chromatin and is an intrinsic feature of HIV IN. Under conditions not disrupting integration preference, about one in 175 HIV ISs...
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