Hello!

My name is German Demidov, and I hold a PhD degree in Biomedicine from Universitat Pompeu Fabra in Barcelona, Spain (2019). I am a computational biologist with expertise in rare disease genetic diagnostics. Additionally, I have experience in statistics, medical cancer research, novel disease gene discovery, and the development of bioinformatic methods.

My goal is to continue leveraging my skills and knowledge in the biomedical field to contribute to the advancement of humankind. As an advocate of open science and open-source software, I am always open to collaboration. I am particularly interested in:

• CNV (Copy Number Variation) calling in NGS data using the tool I have developed.
• The investigation of complex genetic variants in small cohorts of patients on per case basis.
• Testing tools that you developed on large cohorts of rare disease patients (under the condition this tool is promising to improve the care for the patients).
• Helping you with the bioinformatic pipeline for diagnostics (rare disease or tumors).

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