The high performance level of NGS technologies is largely based on bioinformatics methods capable of reassembling entire sequences (contigs or scaffolds) from a very large number of fragments of genomes or transcriptomes.
The first task is to organize and assemble these fragments of information on a reference genome. The goal is to identify variants with the standard, then, to understand their roles and impacts (annotation and interpretation). To this end, our bioinformaticians use semi-automated processing algorithms.
This requires considerable calculation and analytical capacities, knowing genomics is now one of the leading consumers of high-performance calculation (HPC) and big data services.
Along with the calculation power, the data storage constitutes another major challenge in terms of volume, performance and security in genomics. In fact, GenoScreen keeps a high level of sensitivity and confidentiality of your data.
The assembly allows the reconstitution of a whole genome using new sequencing techniques, either based on a reference genome or via a de novo approach.
This reconstruction gives a comprehensive, detailed image of genomic data that facilitates the latter’s interpretation.
GenoScreen - Services provided
In order to obtain the best results, GenoScreen combines the most suitable methods for each case :
- De novo assembly, which assembles the reads generated by sequencing (of a genome or transcriptome) into longer sequences (contigs or scaffolds) with the objective of determining the entire sequence of a chromosome or a transcript.
- Mapping which aligns the short fragments on a reference sequence in FASTA format.
Our teams use several algorithms to optimize the length of the assembled contigs and thus reduce the assembly error rate as much as possible.
A low error rate, credits to our exclusive de novo assembly techniques.