A new method for analysis of whole exome sequencing data (SELIM) depending on variant prioritization

Abstract

Background: After the first genome had been sequenced in 2003 with an international project, Human Genome Project, the 1000 Genomes Project also revealed the analysis of 1092 and 2504 genomes respectively. Whole exome sequencing of human samples was reported to detect approximately 20,000–30,000 SNV and indel calls on average. It is very important to choose the best tool that suits the related study. Methods: In this study, it is aimed to demonstrate the results of an in-house method (SELIM) for variant prioritization of WES data without using in-silico methods. Results: By this method, the annotated data have been decreased by 7.4–13.8 times (mean=10.9). Conclusion: By the initiation of 1.000.000 genome project, powerful databases are needed. In this respect, SELIM is an in-house workflow that can easily be used for simplifying the annotated data without using any in-silico methods. Keywords: Whole exome sequencing, Variant prioritization, Workflow