Rachel Karchin , Jasmine Baker , Kyle Moad , Kyle Anderson , Madison Larsen , Supra Gajjala , James Higgins , Ben Busby
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33. Customize your variant interpretation workflow with OpenCRAVAT
OpenCRAVAT is an open-source modular variant meta-annotator designed to make variant interpretation accessible to a wide audience. The modular design allows researchers to design customized workflows and utilize a diverse set of analysis methods, fostering a personalized approach to variant interpretation. While valuable information about variants is scattered across hundreds of databases and computational variant effect predictors, OpenCRAVAT centralizes access to these tools and makes them available through an easy-to-use interface. Hundreds of tools can be installed using point-and-click or simple command-line statements, and results are combined and presented in a variety of output formats. These tools cater to a broad range of variant types, encompassing germline, somatic, common, rare, coding and non-coding variants. We have recently introduced 'Packages', a new feature that consists of pre-configured combinations of annotators, filters, and output layouts that are focused on specific variant-related questions. For example, the Drug Interaction Package is designed to find pharmacogenomic annotations; the Hereditary Cancer Package finds rare variants in known hereditary cancer genes; and the Splicing Package focuses on variants associated with aberrant splicing. We are now adding support for annotation of large structural variants, comparison of genetic variants across user-defined patient cohorts, and a workflow for annotation of very large (UK-Biobank sized) cohorts in the cloud. To support neoantigen discovery, we provide annotations of epitopes in the Cancer Epitope Database and Analysis Resource (CEDAR). Finally, we provide a Single Variant Report application customized to the needs of molecular tumor boards, to assist oncologists in making treatment decisions.
期刊介绍:
The aim of Cancer Genetics is to publish high quality scientific papers on the cellular, genetic and molecular aspects of cancer, including cancer predisposition and clinical diagnostic applications. Specific areas of interest include descriptions of new chromosomal, molecular or epigenetic alterations in benign and malignant diseases; novel laboratory approaches for identification and characterization of chromosomal rearrangements or genomic alterations in cancer cells; correlation of genetic changes with pathology and clinical presentation; and the molecular genetics of cancer predisposition. To reach a basic science and clinical multidisciplinary audience, we welcome original full-length articles, reviews, meeting summaries, brief reports, and letters to the editor.