Developing an Online Portal for Determining the Genomic Signature of Archaic DNA that are Associated to Modern Human Genetic Diseases: A Meta-Analysis Study

Objective: Mutations or introgression can cause and rise adaptive alleles of which some can be beneficial. Archaic humans lived more than 200,000 years ago in Europe and Western Asia. They were adapted to the environment and pathogens that prevailed in these locations. It can therefore be thought that modern humans obtained significant immune advantage from the archaic alleles.

Materials and Methods: First, data were collected by meta-analysis from previously identified genetic diseases caused by alleles that were introgressed from archaics. Second, the in silico model portal (http://www.archaics2phenotype.xxx.edu.tr) was designed to trace the history of the Neanderthal allele. The portal also shows the current distribution of the genotypes of the selected alleles within different populations and correlates with the individuals phenotype.

Results: Our developed model provides a better understanding for the origin of genetic diseases or traits that are associated with the Neanderthal genome.

Conclusion: The developed medicine model will help individuals and their populations to receive the best treatment. It also clarifies why there are differences in disease phenotypes in modern humans.

Cite this article as: Senturk N, Ergoren M.C. Developing an Online Portal for Determining the Genomic Signature of Archaic DNA That Are Associated to Modern Human Genetic Diseases: A Meta-Analysis Study. Eurasian J Med 2020; 52(2): 153-60.