The PGTB has two séquenceurs Illumina : a NextSeq 2000 and a MiSeq i100, and two Oxford Nanopore Technologies sequencers : the PromethION and the MinION.
Long-read sequencing from Oxford Nanopore Technologies has the advantage of enabling the direct sequencing of native strands (DNA or RNA): there is no PCR bias or fluorescence signal. Furthermore, it is possible to directly access modified bases (methylation, etc.)
Other benefits include, in particular, the speed with which libraries can be prepared and sequencing carried out, as well as real-time analysis (depending on the application).
Furthermore, this technology is constantly evolving; base-calling algorithms are regularly updated, making it possible to improve older datasets (free of charge) without having to resequence them.
The main applications of Oxford Nanopore sequencers:
- Shotgun sequencing: genome assembly, resequencing, epigenetics (methylation), CNV detection
- Targeted sequencing: amplicons, capture, Cas9
- Whole-genome or targeted metagenomics: the possibility of sequencing in the field
- Direct RNA or cDNA sequencing: characterisation and quantification of isoforms, full-length mRNAs