(Abdullah Gül Üniversitesi, Fen Bilimleri Enstitüsü, 2022) Zorluer, Ziya Furkan; 0000-0003-2206-6695; AGÜ, Fen Bilimleri Enstitüsü, Biyomühendislik Ana Bilim Dalı
Inherited diseases are health problems caused by one or more abnormalities in the
genome. It can be caused by changes in a single gene (monogenic) or multiple genes
(polygenic), or by a damage on chromosomes. Genetic variation is the differences in the
DNA sequences that can be observed within a species or in alleles. Evaluation of genetic
variants, together with reported phenotypic or pathogenic annotations from non-human
organisms, facilitates the comparison of these variants with their human counterparts. In
this work, we combined pathogenic and phenotypic annotations with variants, and these
phenotypic orthologous variants from seven organisms can provide clues to the functional
consequences of human genetic variants.