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  1. ...includes a new, comprehensive analysis of transposable element (TE) composition, location, and diversity. SVs and TEs are frequently close to coding sequences and many SVs are heterozygous, suggesting that SVs might impact gene and allele-specific expression. Most SVs are uniquely present in only one...
  2. ..., which can be altered by a single point mutation on or near the catalytic site (Das et al. 2015a). We identified four postduplication or subclonal FIEs in metabolic genes (GPI, PRDX3, GOT1, and TALDO1) in which either the protein or paralogs in the same functional family had known moonlighting functions...
  3. ...dysregulation observed in ART-derived embryos could secondarily alter the genomic distribution and rate of new mutations compared with naturally conceived embryos (Mani et al. 2019). Second, the first few embryonic cell divisions are especially error-prone and uniquely vulnerable to the accumulation of large...
  4. ...introduce new elements, such as exogenous proteins, activating mutations, plasmids, artificial chromosomes, or knock-in modifications. Conversely, loss-of-function approaches remove specific factors using mutations, siRNA silencing, or gene-editing techniques. These modifications can be applied to either...
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  5. ..., which are frequently used in gene signatures. Our proposed method, ANS, solves this issue by creating control genes for each signature gene separately, by selecting genes in an average-expression neighborhood closest to the signature genes’ average expression (Methods).Design of the benchmarkIn our work...
  6. ...stem cell–derived SOD1E100G MNs and shows that dysregulation of VGF, INA, and PENK is a strong disease predictor across species and SOD1 mutations. Our study reveals MN population-specific gene expression and temporal disease-induced regulation that together provide a basis to explain ALS selective...
  7. ...” variations are strictly biallelic and are present in all cells of the genet—unless a locus is affected by a second mutation and the resulting allele is transmitted to a subset of cells.In Hydra oligactis, lowering the water temperature can induce aging. Gene expression comparisons between aging and nonaging...
  8. ...conformation assays in combination with epi editing, we find that gene regulation is mediated by a direct interaction between MYH6 and the enhancer. We also find that enhancer activation alters cardiomyocyte response to the hypertrophy-inducing peptide endothelin-1. Enhancer activation prevents...
  9. ...methyltransferase leads to decreased transcription levels, increased promoter-proximal pausing, and slower elongation (Wang et al. 2023).The influences on cotranscriptional RNA processing alter the composition and diversity of the transcriptome, which eventually affect gene regulation. Whereas studies using Rpb1...
  10. ...: 215–233. doi:10.1016/j.cell.2009.01.002 ↵Baskerville S, Bartel DP. 2005. Microarray profiling of microRNAs reveals frequent coexpression with neighboring miRNAs and host genes. RNA 11: 241–247. doi:10.1261/rna.7240905 ↵Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, Brown CG, Hall KP...
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