Data analysis and modeling in human genomics

Translational Medicine today seems within the reach of any team of professionals with the access to biotechnology and internet, thanks to sequencing and publishing of human genome, and advances in commercially available biotechnology. It is a collaborative effort to bring the latest scientific results from basic research rapidly into applications in medicine. This can be exemplified by a provision of diagnostic tools, a development, and improvement of, procedures. Education, the spread of knowledge, also falls under this category. Polish authors publishing within this trend include Guzik (2010);Bartnik et al. (2012); Derwinska et al. (2012); Wiśniowiecka-Kowalnik et al. (2013), the latter three publications were prepared with the cooperation of the author while working on this thesis. More than 1000 patients were diagnosed by the Institute of Mother and Child (IMID), Warszawa, with the cooperation of Baylor College of Medicine, TX, USA, and with the help of the software developed for that occasion described briefly in Section 6 . Many of these patients carry inborn genetic diseases: autism, epilepsy, mental retardation, certain heart defects. This group of genetic diseases is mediated by aberrations in the genomic material of the carrier. These diseases may be inherited, or they may be introduced de novo into patients genome during pre-embryonic and embryonic phases. Pinpointing in a patients genome the exact genetic aberration responsible for the disease requires two things: i) a close look into patient’s genome sequence which allows to see mutations, e.g. segment deletions, segment duplications, ii) the understanding of each aberration’s consequences for the phenotype, i.e. patient‘s health. The former problem is approached by several biotechnological methods, such as karyotyping, Fluorescent in-situ