Concretization of sequencing
The new technique made it possible to better analyze the results of DNA research
Scientists of the Moscow Institute of Physics and Technology (MIPT), together with the Atlas Medical holding, have developed a new method for analyzing bioinformatic data that can be used to monitor the quality of diagnosis of genetic diseases. The results of the study were published by the scientific journal Nuclear Acid Research (Ivanov et al., Novel bioinformatics quality control metric for next-generation sequencing experiments in the clinical context), the press service of the university briefly reported.
The emergence of methods for determining the DNA sequence of a new generation (NGS – next-generation sequencing, sequencing of a new generation) has reduced the time of DNA research and reduced the cost of its implementation. However, with the introduction of NGS into clinical practice, it has become more difficult for scientists to interpret data from the laboratory. The doctor needs to see a specific answer – whether a mutation has been detected or not, but the laboratory often cannot give such an answer. For example, if a mutation is not found, you need to make sure that this is not due to the poor quality of the DNA sequence data.
The program developed by scientists can determine with sufficient accuracy whether a patient has a mutation. The program compares the DNA test data with a sample (defined by the most common types of mutations), and also evaluates whether a variation may appear in this case, after which it determines whether this data can be used for clinical analysis.
Scientists believe that the development will help simplify the interaction between the practitioner and the laboratory and make a choice between different analysis technologies.
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