Results 261 to 270 of about 5,783,756 (283)

The use of base editing technology to characterize single nucleotide variants

Computational and Structural Biotechnology Journal, 2022
Single nucleotide variants (SNVs) represent the most common type of polymorphism in the human genome. However, in many cases the phenotypic impacts of such variants are not well understood. Intriguingly, while some SNVs cause debilitating diseases, other variants in the same gene may have no, or limited, impact.
Alexis Komor, Alon Goren
exaly   +4 more sources

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A Method for Predicting Allelic Variants of Single Nucleotide Polymorphisms

Current Topics in Medicinal Chemistry
Introduction: Single nucleotide polymorphisms (SNPs) are pivotal in clinical genetics, serving to link genotypes with disease susceptibility and response to environmental factors, including pharmacogenetics. They also play a crucial role in population genetics for mapping the human genome and localizing genes.
Ekaterina Evgenyevna Tyagunova, Alexander Sergeevich Zakharov, Galina Valerievna Pavlova, Daria Alexandrovna Ogarkova, Natalia Alexandrovna Zhuchenko, Vladimir Alexeyevich Gushchin   +5 more
openaire   +2 more sources

Understanding the characteristic of single nucleotide variants

2012
This thesis explores a variety of characteristics towards their use in ranking single nucleotide polymorphisms. The thousand genomes project and many similar ongoing large-scale sequencing efforts require new methods to predict functional variants in both coding and non-coding regions in order to understand phenotype and genotype relationships.
openaire   +1 more source

A common single-nucleotide variant in T is strongly associated with chordoma

Nature Genetics, 2012
Chordoma is a rare malignant bone tumor that expresses the transcription factor T. We conducted an association study of 40 individuals with chordoma and 358 ancestry-matched controls, with replication in an independent cohort. Whole-exome and Sanger sequencing of T exons showed strong association of the common nonsynonymous SNP rs2305089 with chordoma ...
Pillay, N., Plagnol, V., Tarpey, P.S., Lobo, S.B., Presneau, N., Szuhai, K., Halai, D., Berisha, F., Cannon, S.R., Mead, S., Kasperaviciute, D., Palmen, J., Talmud, P.J., Kindblom, L.G., Amary, M.F., Tirabosco, R., Flanagan, A.M.   +16 more
openaire   +3 more sources

RNA Secondary Structure Alteration Caused by Single Nucleotide Variants

2023
A point mutation in coding RNA can cause not only an amino acid substitution but also a dynamic change of RNA secondary structure, leading to a dysfunctional RNA. Although in silico structure prediction has been used to detect structure-disrupting point mutations known as riboSNitches, exhaustive simulation of long RNAs is needed to detect a ...
Risa Karakida, Kawaguchi, Hisanori, Kiryu   +1 more
openaire   +2 more sources

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

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