Empowering Precision Medicine: Can Long-Read Sequencing Deliver Enhanced Genetic Insights?
A typical single read using current short-read sequencing technology spans approximately 150 nucleotides. Alignment of these reads becomes difficult when a sequence lacks specificity, such as when it contains repetitive motifs. Consequently, such reads often receive lower mapping quality scores since they can potentially align to multiple regions within a genome. For example, the read […]
Unique Molecular Identifiers (UMIs) in low-frequency somatic variant detection
Unique Molecular Identifiers (UMIs), also known as Molecular Barcodes or Random Barcodes, are short random nucleotide sequences used to label each DNA or RNA molecule in a sample for high-throughput sequencing. These unique identifiers serve as molecular tags, allowing the distinction of true variants that are present in the original sample from errors introduced during […]
Case study: Diagnosis of a rare coexistence of two independent primary pediatric tumors using HPO-based gene panel in WES analysis.
The specification of the list of genes to be analyzed is of high importance in the NGS data analysis pipeline, as it determines the scope of the analysis. This is especially significant in the case of WES and WGS data, where multiple variants within the analyzed sample are expected to differ from the reference genome. […]
From genetic data to accurate diagnosis: case study on practical use of NGS data analysis by Intelliseq
Precision medicine revolutionizes healthcare by customizing medical decisions and treatments according to an individual’s unique genetic makeup and other relevant factors like lifestyle and family disease history. This patient-centered approach empowers healthcare providers to utilize targeted therapies that specifically address the molecular and genetic characteristics of a patient’s condition. By doing so, precision medicine reduces […]
Gene expression profiles can predict depressive symptoms in post-stroke patients
Scientists from Intelliseq, including Marcin Piechota, Dzesika Hoinkis, Michal Korostynski and Slawomir Golda, recently co-authored a research article published in the Journal of Neurochemistry. The research project involving patients has been conducted by Prof. Tomasz Dziedzic from the Department of Neurology, Jagiellonian University Medical College. The study focuses on predicting depressive symptoms in patients after […]
Identification of SNVs (Single Nucleotide Variants) and small indels (insertion-deletion) by iFlow
Ten most common types of genetic variations in the human genome are variations of a single nucleotide (SNV, Single Nucleotide Variant). These include a single nucleotide substitution (transition and transversion), insertion, or deletion within a DNA sequence. All of us inherit multiple single nucleotide variants (SNVs) from our parents. Additionally, during our lifetime, de novo […]