Research Areas
Our scientific team offers you to perform a nonpublic research special for the
specific
needs of your company. The results will permit your workflow improvement!
Our extensive research capabilities, along with an interdisciplinary approach, allow us to conduct a wide range of studies.An ever-growing quantity of peer-reviewed publications demonstrate how our exploration activities help drive insights, technology findings and enhance disorders discoveries.
Here you can learn more about our scientific goals and achievements.
Production of a bioinformatic pipeline
for clinical data processing from WES and WGS sequencing
Used to analyze over
5000 samples- PCR-free whole genome sequencing data was analyzed using an automated algorithm that includes the removal of adapters and low quality sequences (FASTP package)
- Read alignment to the hg38 reference human genome (BWA-MEM2 package)
- Sorting reads by coordinate (SAMTOOLS package)
- Optical and PCR duplicates filtering (SAMBLASTER package)
- Single nucleotide genetic variants and short insertions and deletions detection and filtering according to quality (STRELKA2 package)
- Sequencing quality control (NGS-BITS package)
- Structural genetic variants detection by two orthogonal methods (CLINCNV and MANTA packages)
- Short tandem repeats number evaluation at clinically significant loci (EXPANSION HUNTER package) and variants annotation regarding clinical information databases (ENSEMBL-VEP package)
Research of the new genotype-phenotype interactions in clinical genomics
Multiple rare and common variants in APOB gene locus associated with oxidatively modified low-density lipoprotein levels
Molecular markers of paragangliomas / pheochromocytomas
Дилатационня картиомиопатия и синдром некомпактного миокарда левого жедлудочка у пациента с синдромом Альпорта
Development of a probabilistic method for estimation of absolute copy number of genomic segments
based on NGS data and a study of the CNV role in adaptability of organisms
Conclusion
The landscape of somatic mutation in cerebral cortes of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
Landmarks of human embryonic development inscribed in somatic mutations
Copy number variation underlies complex phenotypes in domestic dog breeds and other canids
Role of genetic interactions in protein sequences evolution
Conclusion
The landscape of somatic mutation in cerebral cortes of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
Landmarks of human embryonic development inscribed in somatic mutations
Copy number variation underlies complex phenotypes in domestic dog breeds and other canids
Gene expression research based on NGS data
Natural Variation in Abiotic Stress Responsive Gene Expression and Local Adaptation to Climate in Arabidopsis thaliana
Natural Variation in Abiotic Stress Responsive Gene Expression and Local Adaptation to Climate in Arabidopsis thaliana
