An Overview on Advanced Genetic Disease Diagnosis and Prediction Techniques Using Genome Data

Abstract

A genetic disorder in individuals is caused by the inheritance of two alleles from the parents. This review focuses on various techniques that are used to diagnose or predict the possibility of a genetic disorder in patients. The conventional methods of prediction of genetic disorders use family histories and lifestyle factors, this approach may decrease the prediction accuracy. Therefore, introducing genetic risk score prediction based on SNP will increase the prediction accuracy and reduce the overall screening time of medical history. These predictions are done by taking a few samples of blood or sputum from the patient and sequencing the DNA to find the gene patterns. Genetic disorders can be caused by both dominant and recessive alleles. The prediction is done by finding the gene in a sequence that is increased or decreased in size; this is called Copy Number Variation (CNV). There are many studies focused on finding the correlation between the CNV of two different genomes. Researchers used many techniques to find the correlation between CNVs including machine learning, signal processing techniques. We carefully analyzed more than 50 peer-review journals and compared various methods to find the similarity in various techniques