discovering new pathogenic variants by in silico methods

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.