Yasmmin C Martins, Praphulla Ms Bhawsar, Jeya B Balasubramanian, Daniel Russ, Wendy Sw Wong, Wolfgang Maass, Jonas S Almeida
{"title":"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。","authors":"Yasmmin C Martins, Praphulla Ms Bhawsar, Jeya B Balasubramanian, Daniel Russ, Wendy Sw Wong, Wolfgang Maass, Jonas S Almeida","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p><b>Motivation</b>: 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. <b>Results</b>: 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. <b>Availability</b> - https://episphere.github.io/vcf, including supplementary material.</p>","PeriodicalId":72181,"journal":{"name":"AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11141832/pdf/","citationCount":"0","resultStr":"{\"title\":\"FAIR privacy-preserving operation of large genomic variant calling format (VCF) data without download or installation.\",\"authors\":\"Yasmmin C Martins, Praphulla Ms Bhawsar, Jeya B Balasubramanian, Daniel Russ, Wendy Sw Wong, Wolfgang Maass, Jonas S Almeida\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Motivation</b>: 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. <b>Results</b>: 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. <b>Availability</b> - https://episphere.github.io/vcf, including supplementary material.</p>\",\"PeriodicalId\":72181,\"journal\":{\"name\":\"AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-05-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11141832/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
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.