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From Sequencer to Knowledgebase: Curating DNA-Seq Variants for FAIR Genomics

Organiser(s)

Dr Nesrine Kerkeni

Date and time
-
Capacity
25
Referenced event
19th Annual International Biocuration Conference
Overview

This workshop introduces beginners to DNA sequencing (NGS) data curation workflows, bridging the gap between sequencing output and structured, FAIR-compliant knowledge in public repositories. Using Galaxy—a no-code bioinformatics platform—participants will process raw FASTQ files, perform quality control, map reads, call variants, and curate results for submission to trusted resources such as ClinVar, dbSNP, and the European Variation Archive. Emphasis is placed on metadata standards, ontologies, and reproducibility in genomic data curation.

Affiliation/Institution
University of Tunis ElManar, Faculty of medicine of Tunis, Human Genetics Lab
Objectives
  1. Introduce FAIR data principles and metadata standards for genomic datasets
  2. Provide hands-on experience in processing and curating DNA-Seq variant data
  3. Demonstrate integration of curated variants into public databases
  4. Highlight the role of ontologies in standardizing variant annotations
  5. Encourage best practices for reproducible and trustworthy genomic data sharing
Learning Outcomes

By the end of the workshop, participants will be able to:

  • Perform quality control and variant calling on DNA-Seq data using Galaxy
  • Apply appropriate metadata standards and ontologies to variant records
  • Document provenance and curation workflows for reproducibility
  • Prepare a database-ready, FAIR-compliant variant record
  • Recognize the impact of curated genomic data on scientific research and clinical applications
Target Audience
  • Early-career researchers in biology, genomics, and data stewardship
  • Wet-lab scientists seeking to learn about DNA-Seq data curation
  • Students and interns in bioinformatics or biocuration roles
  • Professionals transitioning into genomic data curation
Prerequisites
  • No programming experience required
  • Basic understanding of DNA and sequencing concepts recommended
  • Laptop with stable internet connection and a modern web browser
  • Optional: Familiarity with FASTQ/VCF file formats