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 […]
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 […]