SDS‐CRISPR for Single‐Nucleotide Variant Detection [PDF]
Advanced ScienceThe CRISPR‐Cas12a system offers a promising platform for simple and sensitive nucleic acid diagnostics, including tumor‐associated variant detection and infectious agent identification.
Xin Guan +12 more
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A Modular and Programmable Cas13d Platform for RNA Single Nucleotide Variant Detection [PDF]
Advanced ScienceCRISPR‐based nucleic acid diagnostics have shown broad potential, yet reliable single‐nucleotide variant (SNV) discrimination remains limited by flanking sequence requirements that constrain targetability, and an inherent specificity‐sensitivity trade ...
Zeyu Wang +8 more
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Reaction Pathway Differentiation Enabled Fingerprinting Signal for Single Nucleotide Variant Detection [PDF]
Advanced ScienceAccurate identification of single‐nucleotide variants (SNVs) is paramount for disease diagnosis. Despite the facile design of DNA hybridization probes, their limited specificity poses challenges in clinical applications.
Huixiao Yang +5 more
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Programmable Argonaute-mediated single-nucleotide variant sequencing of cell-free DNA for multi-cancer early detection [PDF]
Nature CommunicationsMutation sequencing of cell-free DNA (cfDNA) in liquid biopsy is crucial for tumor precision medicine, resistance profiling, and clinical decision-making. However, cfDNA mutation profiling in blood samples remains challenging due to its low abundance and
Chong Guo +15 more
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Empirical Bayes single nucleotide variant-calling for next-generation sequencing data [PDF]
Scientific ReportsOne of the fundamental computational problems in cancer genomics is the identification of single nucleotide variants (SNVs) from DNA sequencing data.
Ali Karimnezhad, Theodore J. Perkins
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Using intrahost single nucleotide variant data to predict SARS-CoV-2 detection cycle threshold values. [PDF]
PLoS ONEOver the last four years, each successive wave of the COVID-19 pandemic has been caused by variants with mutations that improve the transmissibility of the virus. Despite this, we still lack tools for predicting clinically important features of the virus.
Lea Duesterwald +6 more
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Improving the Accuracy of Single-Nucleotide Variant Diagnosis Using On-Off Discriminating Primers. [PDF]
Biosensors (Basel), 2023 Shin J, Jung C.
europepmc +2 more sources
The rs16969968 Tobacco Smoking-Related Single-Nucleotide Variant Is Associated with Clinical Markers in Patients with Severe COVID-19. [PDF]
Int J Mol Sci, 2023 Valencia-Pérez Rea D +7 more
europepmc +2 more sources
A Review of Genetic Evidence of Widespread Depletion of Cheetah Gene Diversity and the Need to Conserve the Surviving Populations [PDF]
محیط زیست و توسعه فرابخشی, 2021 Cheetah is the only species from the Acinonyx subfamily and genus whose global population trend has been declining. This species is known as a species with a low genetic variation that has resulted from bottlenecks about 10,000 and 12,000 years ago.
Maryam Mahmoudiasl +2 more
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SomatoSim: precision simulation of somatic single nucleotide variants
BMC Bioinformatics, 2021 Background Somatic single nucleotide variants have gained increased attention because of their role in cancer development and the widespread use of high-throughput sequencing techniques.
Marwan A. Hawari +2 more
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