Руководство по интерпретации данных, полученных методами массового параллельного секвенирования (MPS)

Massive parallel sequencing (MPS) are the most progress and success of technologies in genetic researches. However, the new technologies bring challenges in terms of data management, as well as for the bioinformatics and interpretation of result. This guideline for the evaluation and validation of MPS data is the first document in Russian Federation. A group of bioinformatics, laboratory genetics and clinical genetics worked at these guidelines. We believe that these recommendations would help to stakeholders in the field of human genetics uniforming and managing MPS data.