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  1. ..., several of which are primate lineage-specific TEs (Supplemental Fig. S2E,F).To investigate the TE features that contributed to TE-derived RELA-bound regions, we annotated each RELA peak summit with its corresponding TE subfamily using RepeatMasker (Fig. 2A). We identified 55 significantly enriched TE...
  2. ...Edison Family Center for Genome Sciences and Systems Biology, Washington University School of Medicine, St. Louis, Missouri 63110, USA; 3McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri 63108, USA ↵4 These authors contributed equally to this work. Corresponding...
  3. ...to t(11;22) translocations (Kato et al. 2006; Tong et al. 2010). Exploring publicly available assemblies using RepeatMasker (Smit et al. 2013), we observed copy number variations of PATRR-HSATI-AluY triplets ranging between 1 and 26 copies in ten investigated alleles (Supplemental Table S4...
  4. ..., Boston, MA 02215, USA Corresponding author: kathleenh_burns@dfci.harvard.eduAbstractAlu are high copy number interspersed repeats that have accumulated near genes during primate and human evolution. They are a pervasive source of structural variation in modern humans. Impacts that Alu insertions may have...
  5. ..., and GRCh38, as well as the chimpanzee and bonobo, we show that hundreds of megabases of sequence are missing from at least one human reference, highlighting that primate s contribute to genomic diversity. Aligning population genomic data to these regions indicated that these regions are variable between...
  6. ...or short-read sequencing technology. However, these approaches are inherently limited in their ability to identify variants in complex genomic regions or to capture certain types of genetic differences, such as structural variants (SVs), repeat expansions, and epigenetic changes (Chaisson et al. 2019...
  7. ...of the signature RTEs were from L1, ERV1, ERVL, and Alu subfamilies (Fig. 3H), which is largely consistent with the number of copies of these subfamilies (Fig. 1A,B).Previous studies have highlighted the important role of L1s in diseased and healthy human brains. TDP-43 regulates genomic L1 accessibility...
  8. ...that had or still have the ability to insert into new genomic locations via an RNA intermediate. More than 99% of A-to-I editing in humans is found within a type of RTE known as Alu elements (Kim et al. 2004; Levanon et al. 2004). Proximal inverted repeat Alu elements (IRAlus) have the propensity to fold...
  9. ...) and RepeatMasker (Smit 2013–2015) annotations from the UCSC Genome Browser (retrieved January 27, 2023; tracks “simpleRepeat” and “rmsk,” respectively) (Kent et al. 2002). From TRF, we used all loci. From RMSK, we used all loci annotated as “Low_complexity” or “Simple_repeat.” RMSK and TRF records within 200...
  10. ...are specific to humans (L1HS, SVA_E, SVA_F), Hominidae (L1PA2, SVA_B, SVA_D), Hominoidea (L1PA3, LTR12C, LTR12E), Catarrhini (LTR12F), or Primates (AluY). With the exception of the AluY subfamily, we observed that >60% of TEs overlapping cryptic TSSs were in the sense orientation (Supplemental Fig. S11A...
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