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  1. ..., with a few notable systematic cases. These include a set of genes that are inverted on Chromosome 1 for OsLima at position 600,000–800,000 bp with respect to all other s. Similarly, there are two inversions on aus s (N22 and Natal Boro) around the center of Chromosome 1. Another notable case is present...
  2. ...of CHROMOSOME_I and CHROMOSOME_III. For C. elegans to have a completely accurate reference , the N2 reference assembly needed to be replaced, but the VC2010 assembly could not fully replace it.View this table: In this window In a new window Table 1. Chromosome lengths and tandem repeat lengths of different C...
  3. ...Quadrupia provides a comprehensive catalog of G-quadruplexes across s from the tree of life Nikol Chantzi1,11, Akshatha Nayak1,11, Fotis A. Baltoumas2,3,11, Eleni Aplakidou2,3, Shiau Wei Liew4,5, Jesslyn Elvaretta Galuh4,5, Michail Patsakis1, Austin Montgomery1, Camille Moeckel1, Ioannis Mouratidis...
  4. ...long reads from C. elegans centromereEvaluation with RCA dataThe set of real data is a RCA-based ONT sequencing protocol from isocirc (Xin et al. 2021) that has been used to detect a catalog of full-length circular RNAs from 12 human tissues. We considered a subset of 101 sequences from prostate tissue...
  5. ...and atypical CNVs from family and population sequencing. Genome Res 21: 974–984. doi:10.1101/gr.114876.110 ↵Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A. 2015. OMIM.org: online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders. Nucleic Acids Res 43: D...
  6. ...for each read in question. After we have finished this process, we have the approximate copy numbers for each read. If the read-level k-mer functionality is enabled, motif-sized k-mers are computed for each read. If an SNV VCF catalog is provided: For each read, SNVs that differ from the reference...
  7. ...annotation of centromere with centroanno. bioRxiv doi: 10.1101/123456 .362 Ren J, Gu B, and Chaisson MJ. 2023. Vamos: variable-number tandem repeats annotation using efficient motif sets. Genome Biology 24: 175.363 Ting DT, Lipson D, Paul S, Brannigan BW, Akhavanfard S, Coffman EJ, Contino G, Deshpande V...
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  8. ...Jellyfish (Marçais and Kingsford 2011). The left column of Figure 5 shows the k-mer distribution for HiFi reads for k = 17 (Fig. 5A1), k = 21 (Fig. 5B1), and k = 25 (Fig. 5C1). Odd integers in the range [17, 25] are typical choices for k to estimate size (see, e.g., Vurture et al. 2017; Ranallo-Benavidez et...
  9. ...al. 2012; Félix and Duveau 2012; Cook et al. 2017; Crombie et al. 2019, 2022; Lee et al. 2021). The C. elegans Natural Diversity Resource (CeNDR) catalogs and distributes thousands of wild strains, sequence data, and -wide variation data, including SNVs and short indels (Andersen et al. 2012; Cook et...
  10. ...are ≤100 bp (Supplemental Fig. 1A). The motif sizes are also larger for the TRs in the vamos catalog compared to the PacBio catalog (Supplemental Fig. 1B). The PacBio catalog also showed reduced sequence complexity, as illustrated by the distinct k-mer (k = 10) counts observed in each repeat in the GRCh38...
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