Results 1 to 10 of about 686,066 (145)

SDS‐CRISPR for Single‐Nucleotide Variant Detection [PDF]

Advanced Science
The 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, Chong Guo, Jiongyu Zhang, Rui Yang, Yerramsetti Ramachandra, Chengyu Hou, Minjie Pei, Shuo Zhang, Kurt T. Schalper, Xingye Liu, Qian Wu, Ketan R. Bulsara, Changchun Liu   +12 more
doaj   +3 more sources

Reaction Pathway Differentiation Enabled Fingerprinting Signal for Single Nucleotide Variant Detection [PDF]

Advanced Science
Accurate 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, Linghao Zhang, Xinmiao Kang, Yunpei Si, Ping Song, Xin Su   +5 more
doaj   +3 more sources

Improving the Accuracy of Single-Nucleotide Variant Diagnosis Using On–Off Discriminating Primers [PDF]

Biosensors, 2023
Early detection of rare mutations through liquid biopsy can provide real-time information related to cancer diagnosis, prognosis, and treatment outcomes.
Juny Shin, Cheulhee Jung
doaj   +4 more sources

Single-nucleotide variant calling in single-cell sequencing data with Monopogen. [PDF]

Nat Biotechnol, 2023
Single-cell omics technologies enable molecular characterization of diverse cell types and states, but how the resulting transcriptional and epigenetic profiles depend on the cell’s genetic background remains understudied.
Dou J, Tan Y, Kock KH, Wang J, Cheng X, Tan LM, Han KY, Hon CC, Park WY, Shin JW, Jin H, Wang Y, Chen H, Ding L, Prabhakar S, Navin N, Chen R, Chen K.   +17 more
europepmc   +2 more sources

Control-independent mosaic single nucleotide variant detection with DeepMosaic. [PDF]

Nat Biotechnol, 2023
A deep learning model detects low frequency mosaic variants with improved accuracy. Mosaic variants (MVs) reflect mutagenic processes during embryonic development and environmental exposure, accumulate with aging and underlie diseases such as cancer and ...
Yang X, Xu X, Breuss MW, Antaki D, Ball LL, Chung C, Shen J, Li C, George RD, Wang Y, Bae T, Cheng Y, Abyzov A, Wei L, Alexandrov LB, Sebat JL, NIMH Brain Somatic Mosaicism Network, Gleeson JG.   +17 more
europepmc   +2 more sources

A ribavirin-induced ORF2 single-nucleotide variant produces defective hepatitis E virus particles with immune decoy function. [PDF]

Proc Natl Acad Sci U S A, 2022
Significance Hepatitis E virus (HEV) has increasing prevalence worldwide. However, little is known about the impact of single-nucleotide variants (SNV) on the replication cycle.
Meister TL, Brüggemann Y, Nocke MK, Ulrich RG, Schuhenn J, Sutter K, Gömer A, Bader V, Winklhofer KF, Broering R, Verhoye L, Meuleman P, Vondran FWR, Camuzet C, Cocquerel L, Todt D, Steinmann E.   +16 more
europepmc   +2 more sources

Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads

iScience, 2019
Summary: Linked-read sequencing enables greatly improves haplotype assembly over standard paired-end analysis. The detection of mosaic single-nucleotide variants benefits from haplotype assembly when the model is informed by the mapping between ...
Charlotte A. Darby, James R. Fitch, Patrick J. Brennan, Benjamin J. Kelly, Natalie Bir, Vincent Magrini, Jeffrey Leonard, Catherine E. Cottrell, Julie M. Gastier-Foster, Richard K. Wilson, Elaine R. Mardis, Peter White, Ben Langmead, Michael C. Schatz   +13 more
doaj   +2 more sources

A Modular and Programmable Cas13d Platform for RNA Single Nucleotide Variant Detection [PDF]

Advanced Science
CRISPR‐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, Jiahao Li, Zhuying Yue, Beixuan He, Wenhua Zhang, Zhen Fang, Qing Xia, Yingbin Liu, Yanjing Li   +8 more
doaj   +2 more sources

Base Editing in Human Cells to Produce Single-Nucleotide-Variant Clonal Cell Lines. [PDF]

Curr Protoc Mol Biol, 2020
Base‐editing technologies enable the introduction of point mutations at targeted genomic sites in mammalian cells, with higher efficiency and precision than traditional genome‐editing methods that use DNA double‐strand breaks, such as zinc finger ...
Vasquez CA, Cowan QT, Komor AC.
europepmc   +2 more sources

Systematic comparative analysis of single-nucleotide variant detection methods from single-cell RNA sequencing data

Genome Biology, 2019
Background Systematic interrogation of single-nucleotide variants (SNVs) is one of the most promising approaches to delineate the cellular heterogeneity and phylogenetic relationships at the single-cell level.
Fenglin Liu, Yuanyuan Zhang, Lei Zhang, Ziyi Li, Qiao Fang, Ranran Gao, Zemin Zhang   +6 more
doaj   +2 more sources