Using large public data repositories to discover novel genetic mutations with prospective links to melanoma
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KeywordsMelanoma Data Repository Ataxia Telangiectasia Next Generation Sequencing Data Basic Demographic Information
Next generation sequencing (NGS) data analysis pipelines are frequently described in literature. NGS data is relatively easy to acquire from national data repositories and most software used in the pipelines are open source. This study extends research on the causal relation between changes in the ataxia telangiectasia and Rad3 related (ATR) pathways and melanoma.
Materials and methods
Though analysis and validation of the results are still ongoing at the time of this report, we can share that we identified five previously unreported somatic missense or splice site SNP mutations in the ATR gene region in melanoma patients. Results will be further validated by analysis of NGS data from melanoma cell lines.
The main goal of this abstract was to describe a methodology that we used to identify novel genetic markers in publicly available data. This methodology offers a cost effective way to test hypotheses drawn from laboratory research on human genome data.
This research was supported by the Cancer Research Informatics and the Biostatistics and Bioinformatics Shared Resource Facilities of the University of Kentucky Markey Cancer Center (P30CA177558).
We would like to thank the University of Kentucky Information Technology department and Center for Computational Sciences for computing time on the Lipscomb High Performance Computing Cluster and for access to other supercomputing resources.
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