期刊
BRIEFINGS IN BIOINFORMATICS
卷 23, 期 3, 页码 -出版社
OXFORD UNIV PRESS
DOI: 10.1093/bib/bbac136
关键词
Fastq; quality control; variant call format (VCF); binary alignment map (BAM); European Genome-Phenome Archive (EGA)
资金
- [grantagreementNo871075]
- [LCF/PR/CE20/50740008]
The European Genome-Phenome Archive (EGA) has been leading the archiving and distribution of human identifiable genomic data since 2008. To increase the reusability of data, EGA has developed a new File QC Portal that allows users to assess the quality of data before accessing it.
Since its launch in 2008, the European Genome-Phenome Archive (EGA) has been leading the archiving and distribution of human identifiable genomic data. In this regard, one of the community concerns is the potential usability of the stored data, as of now, data submitters are not mandated to perform any quality control (QC) before uploading their data and associated metadata information. Here, we present a new File QC Portal developed at EGA, along with QC reports performed and created for 1 694 442 files [Fastq, sequence alignment map (SAM)/binary alignment map (BAM)/CRAM and variant call format (VCF)] submitted at EGA. QC reports allow anonymous EGA users to view summary-level information regarding the files within a specific dataset, such as quality of reads, alignment quality, number and type of variants and other features. Researchers benefit from being able to assess the quality of data prior to the data access decision and thereby, increasing the reusability of data (https://ega-archive.org/blog/data-upcycling-powered-by-ega/).
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