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  1. ..., Bruhm DC, Jensen SØ, Medina JE, Hruban C, White JR, et al. 2019. Genome-wide cell-free DNA fragmentation in patients with cancer. Nature 570: 385–389. doi:10.1038/s41586-019-1272-6 ↵De Coster W, Weissensteiner MH, Sedlazeck FJ. 2021. Towards population-scale long-read sequencing. Nat Rev Genet 22: 572...
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  2. ...with the DNA nucleotide and amino acid sequence tracks centered on the uORF (Fig. 4C). The Ribo-seq reads for this minimal uORF are predominantly mapped to the first two nucleotides, A (frame 0, red) and U (frame 1, blue) (Fig. 4C). This read distribution, which is uniquely associated with minimal u...
  3. ...map spl-TRs in a -wide manner across tissues throughout the whole body by using the Genotype-Tissue expression (GTEx) v8 data set, a population-scale resource of whole- sequencing (WGS) and RNA sequencing (RNA-seq).ResultsGenome-wide identification of spl-TRs across 49 tissuesWe discovered cis spl...
  4. ...these questions, we first analyzed two independent data sets comprising PCR-free whole- sequencing (WGS) and -wide DNA methylation levels derived from whole-blood samples in 245 (discovery cohort) and 484 individuals (replication cohort). Using genotypes for 131,635 polymorphic STRs derived from WGS using Hip...
  5. .... Corresponding author: mgymrek@ucsd.eduAbstractShort tandem repeats (STRs) are a class of rapidly mutating genetic elements typically characterized by repeated units of 1–6 bp. We leveraged whole- sequencing data for 152 recombinant inbred (RI) strains from the BXD family of mice to map loci that modulate -wide...
  6. ...-related change that occur across different genetic backgrounds and can associate heterogeneity in aging traits to genetic loci. We analyze transcriptome data from RNA sequencing (RNA-seq) and proteome data from mass spectrometry of heart tissues collected from healthy DO mice at ages 6, 12, and 18 mo. At 6 mo...
  7. ...(Supplemental Table S1). Although the miRNAs are broadly conserved across land plant evolution, the individual families themselves continue to diverge. The number of precursor genes per family varies relative to other plant species (Baldrich et al. 2018), and single-nucleotide polymorphisms at the level...
  8. ...of in silico mutations in each nucleotide position in the region on the two splice sites is shown in the heatmaps at the bottom. The nucleotide base in each position of the human gene sequence is indicated by “x.”Prediction of lineage-specific splicing changesGiven the imperfect accuracy of all compared...
  9. ...the likelihood of identifying true RE events, we carried out -wide prediction of RE events using RNA sequencing data from all 200 mice hippocampi. After removal of known single nucleotide variants (SNVs) and using stringent filters for base (quality score > 25) and mapping quality (quality score > 20) (see...
  10. ...of California–San Diego, La Jolla, California 92109, USA; 3CAS Center for Excellence in Molecular Cell Sciences, University of Science and Technology of China, Hefei, 230027, China ↵4 These authors contributed equally to this work. Corresponding authors: bryansun@ucsd.edu, qukun@ustc.edu.cnAbstractGenome-wide...
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