无需下载或安装,即可对大型基因组变异调用格式 (VCF) 数据进行 FAIR 隐私保护操作。

Yasmmin C Martins, Praphulla Ms Bhawsar, Jeya B Balasubramanian, Daniel Russ, Wendy Sw Wong, Wolfgang Maass, Jonas S Almeida
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引用次数: 0

摘要

动机基因检测和消费者基因组学的普及给个性化使用 VCF 格式的 GWAS 数据带来了物流方面的挑战。具体来说,就是从充满无关变异信息的大型压缩文件中检索目标遗传变异的挑战而言。使数据遍历难题更加复杂的是,隐私敏感的 VCF 文件通常是作为独立的大型单个文件(没有配套的索引文件)来管理的,这些文件由大小不一的压缩块组成,托管在面向消费者的环境中,不支持本地托管执行。结果开发了一个可移植的 JavaScript 模块,支持使用字节范围请求在浏览器中获取部分内容。这包括对位置不规则的压缩块进行即时解压缩,并采用二进制搜索算法迭代识别染色体位置范围。浏览器内的零足迹解决方案(无需下载、无需安装)实现了互操作性、可重用性和面向用户的管理,这些都是科学数据管理的 FAIR 原则所倡导的。可用性 - https://episphere.github.io/vcf,包括补充材料。
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FAIR privacy-preserving operation of large genomic variant calling format (VCF) data without download or installation.

Motivation: The proliferation of genetic testing and consumer genomics represents a logistic challenge to the personalized use of GWAS data in VCF format. Specifically, the challenge of retrieving target genetic variation from large compressed files filled with unrelated variation information. Compounding the data traversal challenge, privacy-sensitive VCF files are typically managed as large stand-alone single files (no companion index file) composed of variable-sized compressed chunks, hosted in consumer-facing environments with no native support for hosted execution. Results: A portable JavaScript module was developed to support in-browser fetching of partial content using byte-range requests. This includes on-the-fly decompressing irregularly positioned compressed chunks, coupled with a binary search algorithm iteratively identifying chromosome-position ranges. The in-browser zero-footprint solution (no downloads, no installations) enables the interoperability, reusability, and user-facing governance advanced by the FAIR principles for stewardship of scientific data. Availability - https://episphere.github.io/vcf, including supplementary material.

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