Single and Mitochondrial Gene Inheritance Disorder Prediction Using Machine Learning
Source abstract
Abstract
One of the most difficult jobs in the post-genomic age is identifying a genetic disease from a massive amount of genetic data. Furthermore, the complicated genetic disease has a very diverse genotype, making it challenging to find genetic markers. This is a challenging process since it must be completed effectively and efficiently. This research article focuses largely on which patients are more likely to have a genetic disorder based on numerous medical parameters. Using the patient’s medical history, we used a genetic disease prediction algorithm that predicts if the patient is likely to be diagnosed with a genetic disorder. To predict and categorize the patient with a genetic disease, we utilize several deep and machine learning techniques such as Artificial neural network (ANN), K-nearest neighbors (KNN), and Support vector machine (SVM). To enhance the accuracy of predicting the genetic disease in any patient, a highly efficient approach was utilized to control how the model can be used. To predict genetic disease, deep and machine learning approaches are performed. The most productive tool model provides more precise efficiency. The simulation results demonstrate that by using the proposed model with the ANN, we achieve the highest model performance of 85.7%, 84.9%, 84.3% accuracy of training, testing and validation respectively. This approach will undoubtedly transform genetic disorder prediction and give a real competitive strategy to save patients’ lives.
Source: openalex_inverted_index · Quality: baseline
Research context
OpenAlex topics: Genomics and Rare Diseases · Machine Learning in Bioinformatics · Genetics, Bioinformatics, and Biomedical Research
SciVX discovery tags are terminology-based. OpenAlex topics are source-provided classifications.
References (17)
Show source-provided references
1. First glimpses of the neurobiology of autism spectrum disorder
2. Biological insights from 108 schizophrenia-associated genetic loci10.1038/nature13595 ↗
3. Global, regional, and national causes of under-5 mortality in 2000–15: An updated systematic analysis with implications for the sustainable development goals10.1016/S0140-6736(16)31593-8 ↗
4. JH. Medicine, “Research news article,” 3 May 2017. [Online]. Available: https://www.hopkinsmedicine.org/news/media/releases/media_advisory_online_mendelian_inheritance_in_man_omim_hosts_symposium_celebrating_50_years. [Accessed 5 December 2021].
5. A proposed nosology of inborn errors of metabolism10.1038/s41436-018-0022-8 ↗
6. Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases
7. Statistics versus machine learning
8. Psomagen, “How can genetics help predict diseases?” Psomagen, 31 August 2020. [Online]. Available: https://psomagen.com/how-can-genetics-help-predict-diseases-psomagen/. [Accessed 11 December 2021].
9. Genome-scale analysis of interaction dynamics reveals organization of biological networks10.1093/bioinformatics/bts283 ↗
10. Uncovering disease-disease relationships through the incomplete human interactome10.1126/science.1257601 ↗
11. Network medicine: A network-based approach to human disease
12. Interactome networks and human disease10.1016/j.cell.2011.02.016 ↗
13. Network-based methods for human disease gene prediction10.1093/bfgp/elr024 ↗
14. Dime: A scalable disease module identification algorithm with application to glioma progression
15. A disease module detection (diamond) algorithm derived from a systematic analysis of connectivity patterns of disease proteins in the human interactome10.1371/journal.pcbi.1004120 ↗
16. Quantifying the health benefits of genetic tests: The importance of a population perspective
17. Polymorphisms associated with cholesterol and risk of cardiovascular events10.1056/NEJMoa0706728 ↗