Návrh a implementace řešení pro ukládání a zpracování genomických dat

Advances in DNA sequencing research stimulate a steep cost reduction of human genome sequencing and an associated increase in the quantity and complexity of the output genomic data. This long-term trend drives rapid transformation in the field of biomedicine, aiming for the effective utilization of generated data in research and clinical care. The main objective of this thesis is to propose a solution for transforming and annotating data describing DNA sequences and genetic variants, as well as storing it in a distributed manner, and to implement parametrized data views enabling the comparison of stored samples in the context of expert annotations. The main objective is achieved by fulfilling three partial objectives. The first partial objective aims to describe technological limitations associated with annotating and analyzing genomic data as well as the arising requirements in the context of the present state of genomics and the associated big data methods and technologies. The second partial objective is to propose a draft integration of the Apache Spark framework and selected domain-specific software utilities, satisfying the defined set of requirements for genomic data processing. The final partial objective aims to demonstrate the pre-processing of input data files and to implement the domain logic of the advanced parameterized data views.