Diversity analysis of pathogenic genomic variants and genes that cause the autosomal recessive diseases using whole exome sequencing

In thesis analysed data reveals which pathogenic genome variants appear in healthy individuals from the general Lithuanian population and which of them have statistically significantly higher frequency in the Lithuanian population, in comparison with other populations. To achieve aim of the study, the Lithuanian exome data from the project “Genetic diversity of the population of Lithuania and changes of its genetic structure related with evolution and common diseases” were used. As a source of known pathogenic variants, the data from ClinVar database were used. In all studied individuals, 321 unique SNV (single nucleotide variant) and 30 unique INDEL were identified as pathogenic. Each person, in average, had 45 SNV genomic variants that were identified as pathogenic. There were identified 15 pathogenic genomic variants that are inherited in autosomal recessive manner and statistically significantly differ from other European populations, 10 of them had a higher frequency and 5 had a lower frequency than the frequencies of Europeans. There were determined 103 pathogenic variants, which differed statistically from the global frequencies of respective genomic variants. Two pathogenic variants of studied data were found only in Žemaitija and one only in Aukštaitija. Study of genome pathogenic variants in healthy individuals can have practical benefits for Lithuanian population diagnostics and interpretation results of ClinVar pathogenic variant database is important for all that use this database