
Long Read Sequencing
Next generation sequencing (NGS) technologies typically make use of generating 75-300bp long reads, which are then either de-novo assembled in a genome or mapped to a reference genome. Complex regularity elements or highly repetitive sequences can make this mapping harder than for uniquely variable ones. By utilizing SMRT technology of the PacBio Sequel II system, we are able to generate reads up to 175.000 bp and analyze your samples with high precision.
De-novo sequencing of previously uncharacterized genomes particularly benefits from long-read sequencing. It provides a powerful tool for analyzing variable number tandem repeats, or for repeat occurrence with disease significance, such as in Huntington’s disease.

Data analysis
GenomeScan’s bioinformatics experts apply optimized pipelines for preprocessing, assemblies, variant calling and disease annotations to analyze your dataset. With our customizable workflows, we help you receive reliable and publication-ready results.
Bioinformatic pipelines can also be tailored according to your research or clinical needs allowing more in-depth mining of your dataset.