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  1. ...k-mer cross-species profiling reveals taxon-specific TE expansions accompanied 1 by KZFP co-option and functional impacts in ruminants 2 3 Pengju Zhao1,2*, Jiayi He1,2, Chen Peng1,2, Yuelang Zhang1,2, Chong Wang1,2, 4 Dongyou Yu1,2, Lingzhao Fang3*, Zhengguang Wang1,2* 5 6 1Hainan Institute...
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  2. ..., Houston, Texas 77030, USA; 6Department of Computer Science and Engineering, University of Michigan, Ann Arbor, Michigan 48103, USA ↵7 These authors contributed equally to this work. Corresponding authors: Xiaotian.Zhang@uth.tmc.edu, drjieliu@umich.eduAbstractChromatin stripes are architectural chromatin...
  3. ...on phenotypic variation, uncovering interactions between loci and samples within a population, as well as the roles of individuals and loci in population-level decision making. For a given SNP j, its encoded genotype (0/1/2) for each individual is substituted into the SHAP formulation to estimate how the model...
  4. ...currently driving issues in a universal manner. In addition, from a methodological perspective, existing strain-level profiling methods rely solely on plain linear reference s. This common limitation prevents them from effectively capturing and representing genetic variations among strains within a species...
  5. ...tasks, including identifying active regulatory elements and interpreting disease-associated genetic variation. However, despite the widespread applications of SAGA methods, no principled approach exists to evaluate the statistical significance of chromatin state assignments. Here, we propose the first...
  6. ...opportunities to uncover novel genomic and epigenomic mechanisms implicated in disease. Sequencing reads generated by LRS not only detect single nucleotide variations (SNVs) and structural variations (SVs) but also probe previously uncharacterized repetitive regions and regions with atypical GC content...
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  7. ...tracks. Although these methods are highly accurate, this coarse formulation (i.e., predicting chromatin accessibility profiles at 128bp or lower resolution) is still insufficient to study local changes in chromatin accessibility caused by point mutations. Moreover, it hinders their applicability...
  8. ...model exhibited slight enrichment (FDR=0.04), suggesting a more specific association between aging-related transcriptional changes and PD pathology. A C D EB F G Figure 2. Profiling of age-associated gene expression variations across substantia nigra cell subclasses. (A) UMAP representation of all...
  9. ...of Ash1 and Set2 to H3K36me3To investigate the roles of Ash1 and Set2 in H3K36me3 and transcriptional regulation, we performed chromatin immunoprecipitation sequencing (ChIP-seq) to profile H3K36me3 distribution in PH-1, Δset2, and Δash1 strains. In PH-1, we identified 8390 significant H3K36me3 peaks...
  10. ...samples, with breakpoint variations confined within 10 bp. Short-read sequencing in the samples failed to detect this DEL, primarily due to the tandem-repeated Alu sequences present within the corresponding region of the reference (Supplemental Fig. S10A,B).To assess the functional impact...
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