Bioinformatician | software engineer | DS/ML specialist
Background in making SNP/CNV/SV detection pipelines, IT systems for analysis and prioritization of results of SNP, SV, CNV detection from patient's NGS data - used by genetic counselors, medical geneticists.
Extensive background in improving of structural variants(SV) detection. SV - insertions, deletions larger than 50 bp.
Current areas of interest:
1) improving the quality of pathogenicity interpretation of DNA variants in the industry overall, reducing the amount of VUS variants with the help of OMICS data.
2) improving the quality of detection of mutations from NGS data, especially quality of structural variants detection, because the accuracy of SV detection in the industry is not still a well-solved problem, and at the same time SV contribute largely to disease state, predisposition, the phenotype of the healthy or non-healthy organism.
3) decreasing cost of genetic diagnostic for patients and cost of high-quality SV/SNP detection in the biotech industry overall.
4) genome SV detection application in rare disease field, in the cancer field, in neurodegenerative diseases, in aging field, predispositions estimations, in clinical diagnostics, research, in crispr/cas related activities, in pharmacogenomics, in immuno-oncology interventions, transplantology, agricultural animals/plants selection/developing, etc.
Long-term areas of interest in projects related to:
Atomic precise manufacturing (APM)
Mechanosynthesis
Nanosensors, nanofilters,nanofluidics, nanomechanical parts of machines
Bottom-up nano self-assembly
Top-down nanoassembly
Long-time inspired by nano-systems described in books of Robert A. Freitas Jr. and Eric Drexler:
http://www.nanomedicine.com/
http://www.rfreitas.com/
https://en.wikipedia.org/wiki/K._Eric_Drexler