Next Generation Sequencing - NGS - Services
Development of NGS technologies revolutionizes sequencing in terms of produced sequences, costs and bioinformatics skills.
It is now easier re-sequencing an exome to analyze disease region that segregates in families or to identify functional variations that could be responsible for Mendelian or common diseases. Target enrichment (NGS library preparation and capture) enables to focus on DNA variations in enriched genes or regions of interest.
Helixio offers NGS services based on Illumina platform, covering different applications: DNA sequencing, RNA-seq, exome sequencing and whole genome sequencing. Our team can provide you across the entire workflow:
- Custom NGS library design;
- Experimental design with adapted parameters (short/long reads, single/paired-end reads);
- Sample preparation and quantification of the qPCR-based library;
- Cluster generation and sequencing;
- Sequencing data analysis.
In our bioinformatics standard workflow, sequencing data analysis includes mapping reads on reference genome, quality control on enriched regions (per base quality, coverage, mapping quality, duplication levels…), identification of variations and detailed annotation (identification, description, quality score, reads count…).
RNA-seq offers access to information on transcriptome complexity: identification of splice variants, novel transcripts or polymorphisms and analysis of differential gene expression. Helixio provides NGS RNA-seq services, from library preparation to data analysis for any application (mRNA, total RNA, small RNA...).
Our sequencing service has completed its technology platform with the latest equipment mid and high output sequencer of Illumina: the NextSeq 500. It is a desktop system that allows flexibility and simplicity to analyze whole genomes, exomes and transcriptomes.
All data generated during the NGS study are provided (raw sequences and alignments) and stored two months.
The Agilent Bravo Automated Liquid Handling Platform is used for automating high-throughput experiments.