intelliseq

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 […]

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Quality control during NGS data analysis in Intelliseq workflows

Implementation of Quality Control (QC) steps in the Next-Generation Sequencing (NGS) data analysis pipelines ensures the reliability of the generated genomic information. NGS technologies produce vast amounts of data, making it crucial to identify and address potential issues early in the analysis workflow. QC involves a series of systematic tests and filtering steps aimed at […]

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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 […]

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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 […]

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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 […]

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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 […]

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Choosing the right genes for analysis: what’s inside gene panels on the IntelliseqFlow platform?

Workflows for Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) data require specification of the genes to be analysed. This step is essential to perform a genomic analysis that will answer a specific question about the patient’s phenotype. We use the HPO database to identify gene candidates for analysis, which are later merged into […]

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New functionality available in the hereditary disorders workflows!

We have added new functionality for report generation among NGS panel, WES and WGS hereditary disorders workflows (fastq input file). The Manual Filtering option allows new report generation with genes of choice, without the need to rerun the analysis. Each human genome differs on average in ~5 million positions from the reference. Therefore, the annotated […]

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Whose genome is the reference genome?

In this text, we’ll take a closer look at the human reference genome – what is it and when do we need it in the context of Next-Generation Sequencing (NGS) data analysis. PRECISION AND SENSITIVITY OF NGS DATA ANALYSIS  The first step in the standard Next-Generation Sequencing data analysis is alignment. During this process, reads […]

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