Abstract
Melanoma is one of the most vigorous and life threatening kind of skin cancer, accounting for millions of death per year. Understanding the process of normal cells transforming to melanoma cells has become a current necessity. The prime objective of the study is to classify the mutated genes that have a role in transforming normal skin epithelial cells into a melanoma cell and predicting their clinical relevance and health care perspective. In order to achieve the objective, we have conducted a comprehensive genome analysis using whole exome sequencing data, precisely focusing on mutations or gene alterations at distinct stages of melanoma. The high number of mutations was predicted at the metastatic stage on conducting whole exome sequence data analysis, wherein study showed that among 61 genes involved in melanoma process, majority of genes are part of NF-KB and WNT signaling pathway, thereby hints the involvement of these two pathways in melanoma disease progression. The identified genes are OR52E2, OR51I1, OR52A5, OR5AS1, OR52E6, OR10P1, OR5M1, OR10A7, OR9Q2, OR52I1, RASA1, and PIK3CA. Further, Invitro analysis of these genes may prove the possibility of melanoma biomarkers.
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Biradar, S., Kiran Kumar, K.M., Naveen Kumar, M., Babu, R.L. (2020). Identification of Clinical Variants Present in Skin Melanoma Using Exome Sequencing Data. In: Jyothi, S., Mamatha, D., Satapathy, S., Raju, K., Favorskaya, M. (eds) Advances in Computational and Bio-Engineering. CBE 2019. Learning and Analytics in Intelligent Systems, vol 16. Springer, Cham. https://doi.org/10.1007/978-3-030-46943-6_10
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