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 […]
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 […]