Novel nonsense mutation in gene identified by whole-genome sequencing in infant with epilepsy disorder: A case report.

Epilepsy is one of the most common neurological disorders affecting approximately 50 million people worldwide. It impacts people of all genders and ages, but evidence suggests a higher incidence rate in children and the elderly. Given that childhood epilepsy has the risk of causing developmental epileptic encephalopathy, which is associated with intellectual, behavioral, and/or motor disabilities, proper assessment of children with new-onset epilepsy at an early stage is essential to prevent threats affecting neurodevelopmental processes.

Genome-Wide Tool for Sensitive de novo Identification and Visualisation of Interspersed and Tandem Repeats.

Genomic repeats are functionally ubiquitous structural units found in all genomes. Studying these repeats of different origins is essential for understanding the evolution and adaptation of a given organism. These repeating patterns have manifold signatures and structures with varying degrees of homology, making their identification challenging.

Identification of SNPs Associated with Drought Resistance in Hybrid Populations of (L.) H. Karst.- (Ledeb.).

Background/objectives: The spruces of the - complex have a total range that is the most extensive in the world flora of woody conifers. Hybridization between the nominative species has led to the formation of a wide introgression zone, which probably increases the adaptive potential of the entire species complex. This study aimed to search the genes associated with drought resistance, develop primers for the informative loci of these genes, identify and analyze SNPs, and establish the parameters of nucleotide diversity in the studied populations.

Polymorphic Loci of Adaptively Significant Genes Selection for Determining Nucleotide Polymorphism of L. Populations in the Urals.

Background: Scots Pine is one of the main forest-forming species in boreal forests; it has great economic and ecological significance. This study aimed to develop and test primers for detecting nucleotide polymorphisms in genes that are promising for detecting adaptive genetic variability in populations of in the Urals and adjacent territories.

Objectives: The objects of the study were 13 populations of Scots Pine located in the Perm Territory, Chelyabinsk Region, and the Republic of Bashkortostan.

PCR analysis: a comprehensive bioinformatics tool for enhancing nucleic acid amplification assays.

Nucleic acid amplification assays represent a pivotal category of methodologies for targeted sequence detection within contemporary biological research, boasting diverse utility in diagnostics, identification, and DNA sequencing. The foundational principles of these assays have been extrapolated to various simple and intricate nucleic acid amplification technologies. Concurrently, a burgeoning trend toward computational or virtual methodologies is exemplified by PCR analysis.