scholarly journals KMeans-NM-SalpEpi: Genetic Interactions Detection through K-Means Clustering with Nelder-Mead and Salp Optimization Techniques in Genome-Wide Association Studies

2021 ◽  
pp. 67-80
Author(s):  
S. Priya ◽  
R. Manavalan

Complex diseases identification through Gene-Gene Interactions (GGIs) plays a significant challenge in Genome-Wide Association Studies (GWAS). A typical indicator of genetic variations in many human diseases is Single Nucleotide Polymorphisms (SNPs). SNPs are the most prevalent sort of genetic variation seen in human beings. The interactions between various SNPs are called Epistasis or genetic interactions. This research paper proposes a two-stage epistasis detection approach based on K-Means clustering and optimization techniques to detect epistasis effects responsible for complex human diseases. In the screening stage, K-Means clustering is adapted to partition the genotype dataset into various clusters. Traditional K-Means clustering algorithms have the flaw of arbitrary selection of the initial k centroid, which leads to inconsistent solutions and traps in the local optimum. We present a hybridized technique based on the K-Means algorithm and Nelder-Mead (NM) optimization (KMeans-NM) to avoid local optima, and all the genotype data falls into a unique collection of clusters for different runs. In the search stage, Salp Optimization with single objective functions (Salp-SO) and Salp Optimization with multi-objective functions (Salp-MO) are employed over the clusters obtained from the screening stage to find disease correlated SNP combinations. The performance of the various proposed algorithms is tested over the simulated datasets. Experimental findings indicated that the KMeans-NM-SalpEpi-SO and KMeans-NM-SalpEpi-MO method is superior to other techniques.

Author(s):  
M. Shamila ◽  
Amit Kumar Tyagi

Genome-wide association studies (GWAS) or genetic data analysis is used to discover common genetic factors which influence the health of human beings and become a part of a disease. The concept of using genomics has increased in recent years, especially in e-healthcare. Today there is huge improvement required in this field or genomics. Note that the terms genomics and genetics are not similar terms here. Basically, the human genome is made up of DNA, which consists of four different chemical building blocks (called bases and abbreviated A, T, C, and G). Based on this, we differentiate each and every human being living on earth. The term ‘genetics' originated from the Greek word ‘genetikos'. It means ‘origin'. In simple terms, genetics can be defined as a branch of biology, which deals with the study of the functionalities and composition of a single gene in an organism. There are mainly three branches of genetics, which include classical genetics, molecular genetics, and population genetics.


2014 ◽  
Vol 38 (4) ◽  
pp. 300-309 ◽  
Author(s):  
Anhui Huang ◽  
Eden R. Martin ◽  
Jeffery M. Vance ◽  
Xiaodong Cai

2007 ◽  
Vol 2 ◽  
pp. 117727190700200 ◽  
Author(s):  
Stephen F. Kingsmore ◽  
Ingrid E. Lindquist ◽  
Joann Mudge ◽  
William D. Beavis

Novel, comprehensive approaches for biomarker discovery and validation are urgently needed. One particular area of methodologic need is for discovery of novel genetic biomarkers in complex diseases and traits. Here, we review recent successes in the use of genome wide association (GWA) approaches to identify genetic biomarkers in common human diseases and traits. Such studies are yielding initial insights into the allelic architecture of complex traits. In general, it appears that complex diseases are associated with many common polymorphisms, implying profound genetic heterogeneity between affected individuals.


2009 ◽  
Vol 195 (2) ◽  
pp. 97-99 ◽  

SummaryOver the past 2 years genome-wide association studies have made major contributions to understanding the genetic architecture of many common human diseases. This editorial outlines the development of such studies in psychiatry and highlights the opportunities for advancing understanding of the biological underpinnings and nosological structure of psychiatric disorders.


2019 ◽  
Vol 10 (1) ◽  
Author(s):  
Gang Fang ◽  
Wen Wang ◽  
Vanja Paunic ◽  
Hamed Heydari ◽  
Michael Costanzo ◽  
...  

Abstract Genetic interactions have been reported to underlie phenotypes in a variety of systems, but the extent to which they contribute to complex disease in humans remains unclear. In principle, genome-wide association studies (GWAS) provide a platform for detecting genetic interactions, but existing methods for identifying them from GWAS data tend to focus on testing individual locus pairs, which undermines statistical power. Importantly, a global genetic network mapped for a model eukaryotic organism revealed that genetic interactions often connect genes between compensatory functional modules in a highly coherent manner. Taking advantage of this expected structure, we developed a computational approach called BridGE that identifies pathways connected by genetic interactions from GWAS data. Applying BridGE broadly, we discover significant interactions in Parkinson’s disease, schizophrenia, hypertension, prostate cancer, breast cancer, and type 2 diabetes. Our novel approach provides a general framework for mapping complex genetic networks underlying human disease from genome-wide genotype data.


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