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  1. ...to the gene expression level. First, the higher the expression level of a given gene, the stronger the impact of its translation speed on the pool of free ribosomes. Second, for a given mistranslation rate, the cost of erroneous protein production (in terms of waste of resources and of direct toxic effect...
  2. ...Institute, Kansas City, Missouri 64108, USA; 4Victor Phillip Dahdaleh Institute of Genomic Medicine at McGill University, Montréal, Québec H3A 0G1, Canada Corresponding authors: david.lougheed@mail.mcgill.ca, guil.bourque@mcgill.caAbstractVariation in short tandem repeats (STRs) is implicated in Mendelian...
  3. ...variations among TUGs, TNGs, and TDGs from ST to GR, suggesting a potential impact of THCs on gene transcriptional activity (Fig. 6B,C).View larger version: In this window In a new window Figure 6. THC unveils genomic dynamics during cellular differentiation. (A) Distribution of THCs of 1013 eligible genes...
  4. ...are needed in order to properly capture the genetic composition of populations. Here, we explore deep learning techniques, namely, variational autoencoders (VAEs), to process genomic data from a population perspective. We show the power of VAEs for a variety of tasks relating to the interpretation...
  5. ...moderate and low impact, respectively, and the remaining 6.4% were rated high impact (Fig. 4B). Our results thus suggest that improved gene coverage facilitates detection of functionally relevant variation.We identified 17,446 LoF variants using T2T-CHM13, an increase from GRCh37 and GRCh38 (Table 1...
  6. ...). However, this average repression effect was small relative to the overall natural variation of expression between cells (Fig. 5A), suggesting that the natural variation of expression overshadows the impact of the miRNAs at the RNA level (see Discussion section). We next looked at median changes of Target...
  7. ...; however, its oncogenic mechanisms remain incompletely understood because of limitations in detection methods and sample availability. In this study, we employ Oxford Nanopore Technologies (ONT) whole- sequencing and full-length transcriptome sequencing to characterize HBV integration events at the genomic...
  8. ...Genetic variation in recalcitrant repetitive regions of the Drosophila melanogaster Harsh G. Shukla1,2, Mahul Chakraborty3 and J.J. Emerson1,4 1Department of Ecology and Evolutionary Biology, University of California Irvine, Irvine, California 92697, USA; 2Graduate Program in Mathematical...
  9. ...These authors contributed equally to this work. Corresponding authors: n.tesi@amsterdamumc.nl, a.n.salazar@amsterdamumc.nl, h.holstege@amsterdamumc.nlAbstractTandem repeats (TRs) play important roles in genomic variation and disease risk in humans. Long-read sequencing allows for the accurate characterization...
  10. ...-in-class, publicly released, harmonized, and jointly called resource of HGDP + 1kGP on GRCh38 that will facilitate analyses of diverse cohorts. This globally representative haplotype resource better captures the breadth of genetic variation across diverse geographical regions than does previous component studies...
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