DETERMINATION OF MALIGNANT MELANOMA BY ANALYSIS OF VARIATION VALUES

Authors : Ahmet Kürşat ESİM, Hilal Kaya, Veysel Alcan

Pages : 120-126

Doi:10.31127/tuje.472328

View : 10 | Download : 9

Publication Date : 2019-07-01

Article Type : Research Paper

Abstract :Melanoma is a serious disease associated with mutation-based cancer cells. Genetic structure and hereditary condition play important role to understand the underlying reasons of the diseases caused by Deoxiribole Nucleic Acid insert ignore into journalissuearticles values(DNA);. In order to identify mutation carriers and to analyze disease, researchers tend to find various gene determinations methods. Nowadays, Next Generation Sequencing insert ignore into journalissuearticles values(NGS); is emerging as a valuable and powerful platform to detect gene-based diseases by entiring human genome. In this study, we aimed to propose a bioinformatics application workflow to distinguish between insertions/deletions and somatic/germline mutations, by using NGS methods. We carried this study out on a data set containing 100 human genomes data insert ignore into journalissuearticles values(20 training, 80 testing); for the detection of Malignant Melanoma. We found that the results of diagnosis performance were 92.50% accuracy, 94.03% precision, 96.92% sensitivity and 95.45% F1 score. These results show the potential for proposed application based on NGS to improve Melanoma detection. 
Keywords : Next Generation Sequencing, Burrows Wheeler Transform, Variant Calling, Malignant Melanoma