Searching journal content for articles similar to Kaessmann et al. 12 (11): 1642.

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  1. ...effectively. Moreover, ScPGE greatly reduces computational demands for modeling by using discrete cCREs instead of the entire genomic region flanking target genes, facilitating rapid training and deployment for new cell types. To quantify its computational demand, we systematically evaluated the model...
  2. ...explosion: Given that each human typically contains 40,000 to 200,000 variants at <0.5% minor allele frequency (MAF) (The 1000 Genomes Project Consortium 2015), an analysis of all possible rare variant pairs yields between 8 billion to nearly 20 trillion combinations per individual, necessitating a priori...
  3. ...in inbred mouse s (Garretson et al. 2025).The biological mechanisms underlying the elevated rate of dnSNVs in ART-derived mice remain unclear. Known mutational processes often leave distinct genomic signatures, including signatures attributable to oncogenic processes (Alexandrov et al. 2020) and germline...
  4. ...DongAhn Yoo1, Katherine M. Munson1 and Evan E. Eichler1,2 1Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195, USA; 2Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195, USA Corresponding author: ee3@uw...
  5. ...extract meaningful condition-associated genes, remove batch-associated signatures, and use the unguided components to build a low-dimensional embedding of any remaining variation. In single-cell data sets, the unguided components will typically capture the condition- and batch-agnostic cell-type variation...
  6. ...impacts when used with non-human species. Here, we use bovine s to assess the limits of using human –trained variant callers, including the allele frequency channel (DV-AF) and joint-caller DeepTrio (DT). Our novel approach, TrioTrain, automates extending DV for diploid species lacking Genome...
  7. ...Unit, Mark Wainwright Analytical Centre, UNSW Sydney, Sydney, New South Wales 2033, Australia; 6UNSW Cellular Genomics Futures Institute, UNSW Sydney, Sydney, New South Wales 2052, Australia; 7Evolution and Ecology Research Centre, School of Biological, Earth and Environmental Sciences, UNSW Sydney...
  8. ...underscore the significance of the CDTs combined with expression and interaction as an effective signature for the discovery of cancer driver lncRNAs.DiscussionlncRNAs can create an additional regulatory dimension superimposed over the genomic and epigenomic programs by interacting with DNAs, RNAs...
  9. .... Mitchell4, Jason E. Fish6,7,15 and Michael D. Wilson1,2 1Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 3K3, Canada; 2Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario M5G 0A4, Canada; 3Institut de Pharmacologie Moléculaire et Cellulaire, Université...
  10. ...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...
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