Implementation of YAML-based models for PGx and PRS genomic analysis
Application of long-read sequencing to improve genotyping of complex pharmacogenetic regions Pharmacogenomics (PGx) is a critical field in personalized medicine, focusing on how an individual’s genetic makeup influences their response to drugs. By analyzing genetic variants that affect drug metabolism, efficacy, and toxicity, PGx can guide tailored treatments, ensuring optimal drug selection and dosing. This […]
From Phenotype to Clinical Practice: Implementing Pharmacogenetic (PGx) Recommendations
Pharmacogenomics, the study of how genes affect a person’s response to drugs, is crucial in the realm of personalized medicine. Pharmacogenes, the genes encoding factors directly involved in drug actions, can be broadly classified into two functional groups: metabolic enzymes and transporters/receptors. Enzyme pharmacogenes are responsible for converting substrates, such as drugs, into smaller molecules, […]
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. […]
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 […]
Inheritance patterns in NGS-based Disease Diagnosis
Understanding the inheritance patterns of genes is particularly significant in the context of genetic diseases. The identification and classification of these patterns provide valuable insights into the likelihood of a genetic variant causing a disease. By incorporating zygosity and gene inheritance information, the iFlow workflows assign specific inheritance pattern matches to identified variants. This comprehensive […]
Structural Variants (SVs) – Large-scale genome rearrangements
The Structural Variants (SVs) are large-scale genetic alterations that affect the structure of the genome. They can involve deletions, insertions, inversions, duplications, and translocations of DNA segments that are at least 50 base pairs long. SCHEME ILLUSTRATING THE SV: Structural variants (SVs) can be found in both coding and non-coding regions of the genome. Some […]
GRCh38: The golden standard in human genome assembly
A reference genome is a representation of a specific organism’s genetic material. It serves as a standard to compare and analyse genomic data obtained from different individuals of the same species. The Genome Reference Consortium (GRC) [1] has been responsible for the development of several assemblies of the human reference genome, with the latest version […]
Genome alignment tools: BWA-MEM or DRAGMAP?
Alignment involves the step when the short fragments of DNA sequence are being matched to the reference genome. For the workflows available on the IntelliseqFlow platform, we offer a choice of two alignment tools: BWA-MEM or DRAGMAP. While both tools are designed to perform the same task, they differ in their underlying algorithms and performance […]