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A quality control portal for sequencing data deposited at the European genome-phenome archive.
Fernández-Orth, Dietmar; Rueda, Manuel; Singh, Babita; Moldes, Mauricio; Jene, Aina; Ferri, Marta; Vasallo, Claudia; Fromont, Lauren A; Navarro, Arcadi; Rambla, Jordi.
Afiliación
  • Fernández-Orth D; European Genome-phenome Archive (EGA) in the Centre for Genomic Regulation (CRG), the Barcelona Institute of Science and Technology Dr. Aiguader 88, Barcelona, 08003 Spain.
  • Rueda M; European Genome-phenome Archive (EGA) in the Centre for Genomic Regulation (CRG), the Barcelona Institute of Science and Technology Dr. Aiguader 88, Barcelona, 08003 Spain.
  • Singh B; European Genome-phenome Archive (EGA) in the Centre for Genomic Regulation (CRG), the Barcelona Institute of Science and Technology Dr. Aiguader 88, Barcelona, 08003 Spain.
  • Moldes M; European Genome-phenome Archive (EGA) in the Centre for Genomic Regulation (CRG), the Barcelona Institute of Science and Technology Dr. Aiguader 88, Barcelona, 08003 Spain.
  • Jene A; European Genome-phenome Archive (EGA) in the Centre for Genomic Regulation (CRG), the Barcelona Institute of Science and Technology Dr. Aiguader 88, Barcelona, 08003 Spain.
  • Ferri M; European Genome-phenome Archive (EGA) in the Centre for Genomic Regulation (CRG), the Barcelona Institute of Science and Technology Dr. Aiguader 88, Barcelona, 08003 Spain.
  • Vasallo C; European Genome-phenome Archive (EGA) in the Centre for Genomic Regulation (CRG), the Barcelona Institute of Science and Technology Dr. Aiguader 88, Barcelona, 08003 Spain.
  • Fromont LA; European Genome-phenome Archive (EGA) in the Centre for Genomic Regulation (CRG), the Barcelona Institute of Science and Technology Dr. Aiguader 88, Barcelona, 08003 Spain.
  • Navarro A; European Genome-phenome Archive (EGA) in the Centre for Genomic Regulation (CRG), the Barcelona Institute of Science and Technology Dr. Aiguader 88, Barcelona, 08003 Spain.
  • Rambla J; European Genome-phenome Archive (EGA) in the Centre for Genomic Regulation (CRG), the Barcelona Institute of Science and Technology Dr. Aiguader 88, Barcelona, 08003 Spain.
Brief Bioinform ; 23(3)2022 05 13.
Article en En | MEDLINE | ID: mdl-35438138
ABSTRACT
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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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Genoma / Genómica Límite: Humans Idioma: En Revista: Brief Bioinform Asunto de la revista: BIOLOGIA / INFORMATICA MEDICA Año: 2022 Tipo del documento: Article

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Genoma / Genómica Límite: Humans Idioma: En Revista: Brief Bioinform Asunto de la revista: BIOLOGIA / INFORMATICA MEDICA Año: 2022 Tipo del documento: Article