The importance of population specific sequence variants as control to investigate the causality of rare sequence variants in human diseases in Jordans

Abstract

Human diseases are caused by environmental factors (infections, malnutrition, poisons, or injuries), or genetic factors including single gene/Mendelian diseases, complex diseases (defects in multiple genes), and genomic diseases (chromosomal abnormalities). The focus is on Mendelian diseases which are characterized by: (1) rare alleles (<0.5% MAF, minor allele frequency) or very rare alleles (<0.1%MAF), and (2) high effect size (OR>3; Odds Ratio of genetic variant per disease expression) [1]. Much of what is known about the relationship between gene function and phenotype is based on the identification of rare variants causing Mendelian diseases. Such identifications have developed new diagnostic, therapeutic, and preventative strategies [2].