bioRxivGeneticsPreprint
RETA: An R Package For Whole Exome And Targeted Region Sequencing Data Analysis
Abstract
Whole exome and targeted sequencing have been playing a major role in diagnoses of Mendelian diseases, but analysis of these data involves using many complicated tools and comprehensive understanding of the analysis results is difficult.Here, we report RETA, an R package to provide a one-stop analysis of these data and a comprehensive, interactive and easy-to-understand report with many advanced visualization features. It facilitates clinicians and scientists alike to better analyze and interpret this type of sequencing data for disease diagnoses.\n\nAvailability and implementationhttps://github.com/reta-s/reta/releases\n\nContactyangwl@hku.hk
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