Data analysis bioinformatics

NGS data analysis:

  1. Advanced identification of genetic variants detected by whole-genome or exome sequencing. Analysis process starts from raw reads to the list of genetic variants. The service includes alignment of the reads to the human reference genome and identification of the variants.

  2. Functional and clinical annotation of genetic variants. Analysis process starts from the list of variants to the table containing important clinical information. The service includes prioritization of the variants from the list, estimation of allele frequency in the populations (base on EXAC and 1000 Genomes databases), a prediction of the impact of the change in protein (SnpEff), evolutionary conservation (PhastCons), the presence of the variant in medical databases (COSMIC, OMIM and HGMD), gene-phenotype association provided in the HPO (Human Phenotype Ontology) and a model of inheritance of the disease associated with a particular gene (from OMIM or ClinVar).

  3. Qualitative and quantitative analysis of the transcriptome. Analysis process starts from raw reads to the list of expressed genes and classification of the transcriptional variants. The service includes an alignment of reads to a reference genome, estimating of mRNA abundance levels and statistical analysis. The results will be presented in the form of graphs and summary tables.

Advanced bioinformatics and software engineering:

  1. An analysis of copy-number variants (CNV) based on results from NGS sequencing of the entire exome (WES) or genome (WGS).

  2. De novo assembly of the entire genome or transcriptome of non-model organisms using the Velvet and Oases tools. The annotation and classification of the new transcripts with blastx.

  3. Configuration and set-up of an NGS-dedicated platform iseq-galaxy for data analysis. Available variants include a server at the headquarter of the Customer or as a platform located in a cloud.