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RFGR: Repeat Finder for Complete and Assembled Whole Genomes and NGS Reads
Repetitive DNA sequences cause genomic instability and are important genetic markers. Identification of repeats is a critical step in genome...
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Detection of four isomers of the human cytomegalovirus genome using nanopore long-read sequencing
Human cytomegalovirus has a linear DNA genome with a total length of approximately 235 kb. This large genome is divided into two domains, "Long" and...
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Haplotype-resolved genome assembly provides insights into evolutionary history of the tea plant Camellia sinensis
Tea is an important global beverage crop and is largely clonally propagated. Despite previous studies on the species, its genetic and evolutionary...
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Computer-Aided Drug Discovery and Design: Recent Advances and Future Prospects
Computer-aided drug discovery and design involve the use of information technologies to identify and develop, on a rational ground, chemical... -
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
BackgroundGenomic variants which disrupt splicing are a major cause of rare genetic diseases. However, variants which lie outside of the canonical...
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Assembly of whole-chromosome pseudomolecules for polyploid plant genomes using outbred map** populations
Despite advances in sequencing technologies, assembly of complex plant genomes remains elusive due to polyploidy and high repeat content. Here we...
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BinaRena: a dedicated interactive platform for human-guided exploration and binning of metagenomes
BackgroundExploring metagenomic contigs and “binning” them into metagenome-assembled genomes (MAGs) are essential for the delineation of functional...
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Misassembly of long reads undermines de novo-assembled ethnicity-specific genomes: validation in a Chinese Han population
An ethnicity is characterized by genomic fragments, single nucleotide polymorphisms (SNPs), and structural variations specific to it. However, the...
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Towards population-scale long-read sequencing
Long-read sequencing technologies have now reached a level of accuracy and yield that allows their application to variant detection at a scale of...
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Complete nucleotide sequence of a new carlavirus infecting Aconitum carmichaelii in China
A novel virus was identified in aconite ( Aconitum carmichaelii Debx.) in China by high-throughput sequencing (HTS) and tentatively named "aconite...
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Genome-resolved metagenomics: a game changer for microbiome medicine
Recent substantial evidence implicating commensal bacteria in human diseases has given rise to a new domain in biomedical research: microbiome...
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Long-read trio sequencing of individuals with unsolved intellectual disability
Long-read sequencing (LRS) has the potential to comprehensively identify all medically relevant genome variation, including variation commonly missed...
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Computational Tools in Drug-Lead Identification and Development
Drug discovery is a multidisciplinary process, which encompasses scientific areas like chemistry, biology, pharmacology, and computer sciences. In... -
Unraveling metagenomics through long-read sequencing: a comprehensive review
The study of microbial communities has undergone significant advancements, starting from the initial use of 16S rRNA sequencing to the adoption of...
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Artificial Intelligence and Computational Biology in Gene Therapy: A Review
One of the trending fields in almost all areas of science and technology is artificial intelligence. Computational biology and artificial...
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Single-haplotype comparative genomics provides insights into lineage-specific structural variation during cat evolution
The role of structurally dynamic genomic regions in speciation is poorly understood due to challenges inherent in diploid genome assembly. Here we...
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Molecular characterization of the complete genome of a novel ormycovirus infecting the ectomycorrhizal fungus Hortiboletus rubellus
Advancements in high-throughput sequencing and the development of new bioinformatics tools for large-scale data analysis play a crucial role in...
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Exploring the tymovirales landscape through metatranscriptomics data
Tymovirales is an order of viruses with positive-sense RNA genomes that mostly infect plants, but also fungi and insects. The number of genome...
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Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
The developmental and epileptic encephalopathies (DEE) are a group of rare, severe neurodevelopmental disorders, where even the most thorough...
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metaSpectraST: an unsupervised and database-independent analysis workflow for metaproteomic MS/MS data using spectrum clustering
BackgroundThe high diversity and complexity of the microbial community make it a formidable challenge to identify and quantify the large number of...