Results 291 to 300 of about 6,146,275 (314)

Technical strategy for monozygotic twin discrimination by single-nucleotide variants

International Journal of Legal Medicine
Monozygotic (MZ) twins are theoretically genetically identical. Although they are revealed to accumulate mutations after the zygote splits, discriminating between twin genomes remains a formidable challenge in the field of forensic genetics. Single-nucleotide variants (SNVs) are responsible for a substantial portion of genetic variation, thus ...
Weifen Sun, Ziwei Wang, Shubo Wen, Ao Huang, Hui Li, Lei Jiang, Qi Feng, Danlin Fan, Qilin Tian, Dingding Han, Xiling Liu   +10 more
openaire   +2 more sources

Single-nucleotide variant of PIK3CA H1047R gene assay by CRISPR/Cas12a combined with rolling circle amplification.

Analytica Chimica Acta, 2021
Gai-Hua Cao, Xiao-Long Chen, Yuanyi Deng, Fu-Ping Nie, Yin Liu, Guo-Ming Wang, D. Huo, Chang-Jun Hou   +7 more
semanticscholar   +1 more source

Identification of multiple single-nucleotide variants for clinical evaluation of drug resistance

Talanta, 2022
Shanwen Hu, Jing-Juan Xu
exaly  

Coding Intrinsic Disorder into DNA Hybridization Probes Enables Discrimination of Single Nucleotide Variants over Wide and Tunable Temperature Ranges

Angewandte Chemie - International Edition, 2023
Hui Deng, Qianfan Yang
exaly  

Beyond the single nucleotide variant in epilepsy genetics

Nature Reviews Neurology, 2014
Ingrid E. Scheffer, Heather C. Mefford
openaire   +1 more source

Establishing a novel inflammatory bowel disease prediction model based on gene markers identified from single nucleotide variants of the intestinal microbiota

iMeta, 2022
Jiachao Zhang, Shi Huang, Shuaiming Jiang   +2 more
exaly  

Epilepsy: Beyond the single nucleotide variant in epilepsy genetics.

Nature reviews. Neurology, 2014
Copy number variants (CNVs; deletions or duplications of chromosomal regions) have emerged as an important cause of human disease. In a recent study, epilepsy could be attributed to a pathogenic CNV in 5% of patients, but understanding the implications of a CNV for an individual patient can be challenging.
Ingrid E, Scheffer, Heather C, Mefford
openaire   +1 more source

Analysis of Single Nucleotide Variants (SNVs) Induced by Exposure to PM10 in Lung Epithelial Cells Using Whole Genome Sequencing

International Journal of Environmental Research and Public Health, 2021
Ji Woong Son, In Beom Jeong, Sun Jung Kwon   +2 more
exaly  

Molecular dynamics simulation-guided toehold mediated strand displacement probe for single-nucleotide variants detection

Exploration, 2022
Xin Su, Linghao Zhang
exaly  

Entropy-driven catalytic amplification adjusted by stoichiometry for single-nucleotide variants detection with high abundance sensitivity

Analytica Chimica Acta, 2021
Yizhen Liu, Weiyang Tang, Xiaolong Wu
exaly