Automated, fast and reliable analysis of pyrosequencing signals
Pyrosequencing is a DNA sequencing technology that has many applications including rapid genotyping of single nucleotide polymorphisms (SNP) and other sequence variations between different cells, individuals and species. Identifying the specific composition of microorganisms inside a microbial population may help choose the most specific treatment in case of infectious disease. Likewise, pyro-sequencing can also apply to the screening and identification of oncogenic mutations(s) in a heterogeneous sample containing tumour cells of interest in a background of wild type cells. Converting a pyrosequencing signal into a nucleotide sequence appears highly challenging when signal intensities are low (unitary peak heights <5) or when complex signals are produced by several target amplicons. In these cases, the pyrosequencing software fails to provide correct nucleotide sequences. At the CTMA (Center for Applied Molecular Technologies), researchers developed the AdvISER-PYRO, an algorithm based on a machine learning method (i.e., a sparse representation) to perform an automated, fast and reliable analysis of pyrosequencing signals which circumvents above...