Searching journal content for articles similar to Horsfield et al. 35 (4): 1025.

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  1. ...and an actor-critic RL model to learn the read-to-haplotype assignment algorithm based on the MFC reward. We used a large set of fragment graph topologies derived from s from a diverse set of populations included in the 1000 Genomes Project to train Ralphi. To demonstrate the generalizability and adaptability...
  2. .... 2016) allows for the optimization of sequencing efficiency, reducing sequencing capacity wasted on DNA fragments that do not provide utility when answering a given biological question. The application of adaptive sampling to nanopore sequencing can address long-standing challenges inherent to other...
  3. .... Graph-based algorithms can effectively represent the interconnections and overlapping patterns within s (Koutrouli et al. 2020), in which the nodes in the graph represent unique DNA sequences. Because of the tangled nature of repeated sequences within the assembly graph, exploiting graph structure...
  4. ...Accurate and fast graph-based pan annotation and clustering with ggCaller Samuel T. Horsfield1,2, Gerry Tonkin-Hill3, Nicholas J. Croucher1,4 and John A. Lees1,2,4 1MRC Centre for Global Infectious Disease Analysis, Department of Infectious Disease Epidemiology, Imperial College London, London W12...
  5. ...an optimized analysis pipeline (https://github.com/juditharres/Nanopore4Clinics) for comprehensive variant detection. This pipeline balances comprehensiveness and efficiency, ensuring fast turnaround times for both clinical cases and large-scale population studies. To establish ONT's performance and validate...
  6. ...increasingly used for detecting and characterizing pathogenic organisms (Taxt et al. 2020), outbreak surveillance (Quick et al. 2016; Yakovleva et al. 2022), and in situ sequencing (Burton et al. 2020; Latorre-Pérez et al. 2021), that is, taking the sequencer to the sample. Significantly, the ONT platform...
  7. ..., requires efficient computational detection methods due to experimental limitations. Although machine learning predictors have been proposed, their performance could be enhanced through systematic optimization of feature encoding schemes. Here, we propose EnDeep4mC, a dual-adaptive framework integrating...
  8. ...on long-read whole- sequencing to simultaneously identify variants and investigate the contribution of skew to X-linked diseases in females. We used the Oxford Nanopore Technologies PromethION 24 platform and its adaptive sampling capacity to enrich X Chromosome reads. We sequenced peripheral samples...
  9. ...the size of the chain of sequential signal values that make up a raw nanopore read. Despite these savings, signal data in both formats remain ∼10× larger than their corresponding basecalled reads, or ∼1.7 TiB for a typical human sample at ∼40× coverage (Supplemental Table S1).The large size of raw ONT...
  10. ..., long-read sequencing-based methods, using single-molecule real-time (SMRT) or nanopore sequencing technology, can directly detect modified bases, eliminating the need for such preprocessing (Moshitch-Moshkovitz et al. 2022; Kong et al. 2023). The SMRT sequencing platform has been adapted for direct RNA...
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