Document Type : Systematic Review and Meta-analysis
Authors
1
Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
2
Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
3
General Practitioner, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
4
General Practitioner, Shiraz University of Medical Sciences, Shiraz, Iran.
5
Department of Plastic Surgery, Iranshahr University of Medical Sciences, Iranshahr, Iran.
6
Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
7
Department of Cancer Biology, College of Medicine, University of Cincinnati, Ohio, USA.
8
Department of Obstetrics and Gynecology, Iranshahr University of Medical Sciences, Iranshahr, Iran.
9
Department of Radiology, Shahid Rahnamoun Hospital, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
10
Hematology and Oncology Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
11
Department of Social Medicine, Medical School, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Abstract
The Hardy-Weinberg Equilibrium (HWE) is a fundamental principle employed in the analysis of genetic data, encompassing studies of meta-analysis and genomic sequencing. It has been demonstrated that HWE possesses the property of transitivity, wherein a multi-allelic polymorphism in equilibrium will persist in its equilibrium state even when alleles are deleted or combined. Nonetheless, the practice of filtering loci that do not adhere to HWE has been observed to impact the inference of population genetics within RADseq datasets. In response to this concern, the Robust Unified Test for HWE (RUTH) has been devised to consider population structure and genotype uncertainty, thereby offering a more precise evaluation of the quality of genotype data. Furthermore, deviations from HWE, such as extreme heterozygote excess, can be effectively utilized to identify genotyping errors or to pinpoint the presence of rare recessive disease-causing variants. In summary, it is evident that HWE holds immense significance in the field of genetic analysis, and its application in meta-analysis studies and genomic sequencing can yield invaluable insights into the intricacies of population structure and the genetics of diseases.
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