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  1. ...frequently a window of genomic bases covering one or more polymorphic sites is correctly inferred in the personalized reference. We considered each of the 18.8 million sites that were polymorphic according to the HGSVC2 reference panel. We call the site under consideration the “pivot.” As a group, we...
  2. ...of variation length was shown using the hap1 as reference, and ordinate numbers were logarithmically transformed. (C) Genome-wide annotation of deletion and insertion mutations smaller than 50 bp.We subsequently analyzed the expression and functional differences between alleles within the haplotypes...
  3. ...of transposable element origination and high inactivity compared to other vertebrates. Beyond providing a reference point for comparative vertebrate genomic studies, the new gar s illuminate a structural component of slow genomic evolution in living fossils and molecular mechanisms that may underlie exceptional...
  4. ...encoded unchanged products in VC2010; moreover, we predicted ≥53 new genes in VC2010. The recompleted of C. elegans should be a valuable resource for genetics, genomics, and systems biology.The usefulness of model organisms in modern biology partly comes from their having reference assemblies...
  5. ...from the 1000 Genomes Project and Human Pan Reference Consortium. We attain high-depth sequencing of full-length D4Z4 arrays of up to 40 repeat units (∼132 kb), accurately capture contracted arrays, genetic mosaicism, and pathogenic SMCHD1 variants, and generate consensus sequences of all D4Z4 alleles...
  6. ...targeted mRNAs and mitigate truncated protein production. The presence of independent degradation pathways conflicts with genetic evidence supporting the requirement of all of SMG-1 through SMG-7 in Caenorhabditis elegans’ NMD (Hodgkin et al. 1989; Cali et al. 1999; Anders et al. 2003).A contemporary SMG-5...
  7. ...called “fountains,” which have also been reported in zebrafish and mice. These are population average reflections of DNA loops originating from distinct genomic regions and are ∼20–40 kb in C. elegans. Hi-C analysis upon cohesin and WAPL-1 depletion supports the idea that cohesin is preferentially loaded...
  8. ...with transcriptional derepression of non-exonic regions in the .View larger version: In this window In a new window Figure 1. Reduced transcriptional fidelity is pervasive during aging in Caenorhabditis elegans. (A) Structural and functional compositions (%) of genomic elements in C. elegans. Structural composition...
  9. ...transcriptomic data is hindered by high noise levels and missing gene measurements, challenges that are further compounded by the higher cost of spatial data compared to traditional single-cell data. To overcome this challenge, we introduce spRefine, a deep learning framework that leverages genomic language...
  10. ...organism Encyclopedia of Regulatory Networks) consortia to systematically assay TF binding events in vivo in two major model organisms, Drosophila melanogaster (fly) and Caenorhabditis elegans (worm). These data sets comprise 605 TFs identifying 3.6 M sites in the fly and 356 TFs identifying 0.9 M sites...
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