VCFX: A Minimalist, Modular Toolkit for Streamlined Variant Analysis
摘要
High-throughput sequencing technologies continue to generate massive amounts of genomic variant data, often stored in the widely adopted Variant Call Format (VCF). Despite the availability of powerful comprehensive frameworks such as BCFtools or GATK, researchers and developers may require smaller, more flexible tools to tackle specialized tasks or quickly prototype novel pipelines. In this paper, we present VCFX, a modular suite of C++ utilities designed to support the entire lifecycle of variant data analysis, from filtering and annotation to merging, phasing, and structural variant manipulation. Adhering to a minimalist philosophy reminiscent of Unix pipelines, VCFX components stream VCF records via standard input/output, minimizing intermediate disk usage and simplifying integration with existing genomic workflows. By combining minimal software dependencies, concise code, and an approach tailored to HPC-friendly pipelines, our approach seeks to lower barriers to large-scale variant processing while granting researchers granular control over custom analyses. The code of the toolkit is available at https://github.com/ieeta-pt/VCFX .