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The Bioinformatics Department of RCMG has developed the "NGS-data-Genome" software for processing exome and whole-genome sequencing data

The Bioinformatics Department of RCMG has developed the "NGS-data-Genome" software for processing exome and whole-genome sequencing data.

Key software specifics:

  • Decentralized operation during the most resource-intensive computations, parallel data processing on one or more servers, scalability;
  • Flexibility in setting up the data processing (so-called bioinformatic pipelines);
  • final information about nucleotide sequence variants is stored in a database which structure may vary depending on the purpose of the study, the algorithms applied, and the information sources used;
  • WEB interface is used for queries to the database of nucleotide sequence variants.

Tasks to be solved: 

  • assessment of the input data quality;
  • read mapping to the reference genome;
  • search for differences from the reference DNA sequence (nucleotide sequence variants);
  • collection of data on the clinical significance and allele frequencies;
  • estimates of the identified variants pathogenicity and assessment of their correspondence to the observed phenotypic traits;
  • selection of the most relevant variants to explain the causes of genetic diseases;
  • accumulation of data on systematic sequencing errors and screening them out;
  • family analysis.


The list of tasks to be solved and information sources to be used is constantly expanding.

The software will allow researchers to obtain the most relevant information (in particular, on the clinical significance of the genetic variants found), to continuously accumulate data on genetic variants in a convenient form for further use, and will reduce the volume of routine operations for bioinformatic data analysis, and increase the efficiency of the RCMG staff involved in the analysis of whole genome sequencing data.

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