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

Senturk N, Ergoren MC
The Eurasian journal of medicine · 2020 · doi:10.5152/eurasianjmed.2019.18424 · PMID:32612423 · PMC7311138
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This meta-analysis developed an online portal to trace Neanderthal allele history and distribution, aiming to clarify the genomic origins of modern human genetic diseases and phenotypic variations.

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This meta-analysis study developed an in silico online portal to trace the history and distribution of Neanderthal alleles introgressed into modern human genomes. The researchers analyzed previously identified genetic diseases caused by these archaic alleles to correlate specific genotypes with individual phenotypes across different populations. The resulting model aims to clarify the origins of certain genetic traits and disease variations, thereby assisting in personalized treatment strategies. The paper does not explicitly discuss endometriosis or adenomyosis; it was included in the corpus via a keyword match in the upstream search index.

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Abstract

ObjectiveMutations 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 methodsFirst, 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.ResultsOur developed model provides a better understanding for the origin of genetic diseases or traits that are associated with the Neanderthal genome.ConclusionThe 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.
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Abstract

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. Similar Articles This work is licensed under a Creative Commons Attribution 4.0 International License.

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