Quality Control Metrics at Different Stages of Genomic Assembly in the Parallel Sequencing Using the Nanofor SPS

Next generation sequencing (NGS) using short reads makes a great contribution to solving the problems of modern genomics, genetics, cell biology and medicine, especially in the research of metagenomics, comparative genomics, polymorphism detection, mutation screening, transcriptomic profiling and many other applications. Unfortunately, in this case, the sequencing reliability turns out to be unstable to technical errors of the platform and a variety of biases that can influence scientific conclusions. Briefly, NGS technologies consist of creating a collection of numerous short DNA fragments, called a “library”, obtaining molecular colonies and their subsequent massive parallel sequencing. Such sequenced fragments are called “reads”, they are collected into extended lines (scaffolds). These longer nucleotide sequences are then assembled into genomes for further analysis. The first Russian parallel sequencing sequencer Nanofor SPS is being created at the Institute of Analytical Instrumentation of the Russian Academy of Sciences. To assess the capabilities of this device similar to it for use in various studies in medicine, biology and other industries, it is very important to verify the reliability of genetic analysis. For this, it is necessary to provide quality control metrics, which are considered in this work.