EndGV

EndGV, short for End-to-End Genome Visualization, is an open-source software framework that provides end-to-end visualization, annotation, and analysis of genomic data. It aims to streamline workflows from raw data ingestion to interpretation by integrating multiple stages of the genomics pipeline into a single platform.

Developed by a collaboration of academic groups and industry researchers beginning in 2021, EndGV released its first public version in 2022. The project is maintained by an international community and governed by an open-source license, with contributions from developers, biologists, and data scientists.

Key features include a modular architecture with plug-in components, support for common data formats (FASTA, FASTQ, GFF3, VCF), and an interactive genome browser that renders sequence, annotations, and variant data. EndGV offers workflow orchestration, reproducible pipelines via configuration files, and project-level data management with access controls. It emphasizes interoperability with existing tools and cloud-compatible deployment options to support on-premises and hybrid workflows.

Architecture and deployment: EndGV uses a client-server model with a REST API and optional GraphQL, containerized services, and a microservices approach. Data can be stored in local storage or in cloud-compatible object stores, with encryption in transit and at rest. The system supports role-based access control, audit trails, and reproducible environments via container images and versioned configurations.

Impact and reception: EndGV has been adopted by several research laboratories and clinical genomics groups as a unifying interface for data exploration and variant interpretation. Proponents note reduced tool fragmentation and improved reproducibility, while developers continue to address scalability for large cohorts and pangenomic analyses.

See also: Genome browser, Variant annotation, Genomic data visualization, Bioinformatics pipelines.

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