Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jtha.2025.08.015 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
IBDV-SSA, a novel molecular approach for the recovery of infectious bursal disease virus whole genomes from FTA cards.
Microbiol Spectr
September 2025
United States Department of Agriculture, Agricultural Research Service (USDA-ARS), Southeast Poultry Research Laboratories, US National Poultry Research Center, Athens, Georgia, USA.
Infectious bursal disease (IBD), a highly contagious viral disease in young chickens, poses significant economic losses due to high mortality and immunosuppression. While IBD virus (IBDV) virulence is influenced by multiple genes, whole-genome sequencing (WGS) of IBDV is crucial for defining the strain pathotype and clinical profile. Flinders Technology Associates (FTA) cards are convenient for field sample collection, but their filter paper matrix can hinder nucleic acid recovery, impacting sequencing efficiency.
View Article and Find Full Text PDFThe Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
Nat Genet
September 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Despite advances in genomic diagnostics, the majority of individuals with rare diseases remain without a confirmed genetic diagnosis. The rapid emergence of advanced omics technologies, such as long-read genome sequencing, optical genome mapping and multiomic profiling, has improved diagnostic yield but also substantially increased analytical and interpretational complexity. Addressing this complexity requires systematic multidisciplinary collaboration, as recently demonstrated by targeted diagnostic workshops.
View Article and Find Full Text PDFPerformance of Rapid Clonotyping of Chronic Lymphocytic Leukemia Using Flongle Flow-Cell Nanopore Sequencing of IGH Rearrangements.
Eur J Haematol
September 2025
Haematology-Pathology Research Laboratory, Research Unit for Haematology and Research Unit for Pathology, University of Southern Denmark and Odense University Hospital, Odense, Denmark.
Background: Clonotyping of immunoglobulin heavy chain (IGH) gene rearrangements is critical for diagnosis, prognostication, and measurable residual disease monitoring in chronic lymphocytic leukemia (CLL). Although short-read next-generation sequencing (NGS) platforms, such as Illumina MiSeq, are widely used, they face challenges in spanning full VDJ rearrangements. Long-read sequencing via Oxford Nanopore Technologies (ONT) offers a potential alternative using the compact and cost-effective flow cells.
View Article and Find Full Text PDFAssembly-free typing of Nanopore and Illumina data through proximity scoring with KMA.
NAR Genom Bioinform
September 2025
Research Group for Genomic Epidemiology, National Food Institute, Technical University of Denmark, 2800 Kgs. Lyngby, Denmark.
Advances in Oxford Nanopore Technologies (ONT) with the introduction of the r10.4.1 flow cell have reduced the sequencing error rates to <1%.
View Article and Find Full Text PDFBenchmarking Ploidy Estimation Methods for Bulk and Single-Cell Whole Genome Sequencing.
Adv Sci (Weinh)
September 2025
Key Laboratory of Multi-Cell Systems, Shanghai Institute of Biochemistry and Cell Biology, Center for Excellence in Molecular Cell Science, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai, 200031, China.
Maintaining cellular ploidy is critical for normal physiological processes, although gains in ploidy are frequently observed during development, tissue regeneration, and metabolism, and potentially contribute to aneuploidy, thereby promoting tumor evolution. Although numerous computational tools have been developed to estimate cellular ploidy from whole-genome sequencing (WGS) data at bulk or single-cell resolution, to the knowledge, no systematic comparison of their performance has been conducted. Here, a benchmarking study is presented of 11 methods for bulk WGS and 8 methods for single-cell WGS data, utilizing both experimental and simulated datasets derived from diploid cells mixed with aneuploid or polyploid cells.
View Article and Find Full Text PDF