wholegenomesequencing

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 […]

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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. […]

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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, IntelliseqFlow workflows assign specific inheritance pattern matches to identified variants. This comprehensive approach […]

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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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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 […]

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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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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 […]

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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 […]

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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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