Blog

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 […]

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 […]

Best practices for generating gene panels for NGS data analysis. The iFlow platform makes this feasible.

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 […]

Intelliseq’s Key Takeaways from #ACMG23: The Future of Genomic Decision Making

This article features a post-ACMG event interview with Klaudia Szklarczyk-Smolana, the CEO of Intelliseq, and David Hanna, the Chief Commercial Officer at Intelliseq. They discuss their key takeaways from the event, the future of genomic clinical decision making, and Intelliseq’s plans to implement their learnings. The interview also highlights the importance of attending industry events […]

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 […]

World Rare Diseases Day 2023

Rare Disease Day presented by: RareDiseaseDay is a global campaign to raise awareness about rare diseases and the importance of early and accurate diagnosis. Many rare diseases are genetic in nature, which means that genetic testing is an important tool in the diagnostic odyssey. Early and accurate diagnosis of rare diseases is crucial for improving […]

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 […]

World Rare Diseases Day Initiative

February 28th is World Rare Diseases Day. At Intelliseq, we have prepared an initiative supporting patient diagnostics. We realize that the diagnosis of genetic diseases is not easy in every case and often requires taking actions that go beyond standard activities. There is a great number of patients struggling with the diagnostic odyssey, waiting for […]