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Overview / Masterclasses (None-CPD) /GEN-BOOT: Genomics & Bioinformatics Bootcamp “Foundational Skills for Genomic Data Analysis”

Date: 23–25 November 2025 (3 full days)
Time: 09:00 AM – 05:00 PM
Location: Sidra Medicine – Research Branch & Outpatient Clinic, Floors 5 & 6, Doha, Qatar
Access will be provided upon arrival. A contact number will be shared in advance to facilitate entry and logistics.

Overview

The Genomic Variant Analysis Pipeline Masterclass is a three-day intensive training program designed to equip participants with hands-on, practical skills in end-to-end genomic variant analysis. From raw sequencing reads to clinically actionable insights, the bootcamp covers every step of the bioinformatics workflow essential for modern genomic research and precision medicine applications.

Led by expert bioinformaticians and computational biologists, this program combines foundational theory with practical exercises using real-world datasets on Linux-based HPC environments. Attendees will work in command-line interfaces and become proficient in using industry-standard tools for quality control, alignment, variant calling, annotation, and clinical interpretation.

Objectives

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

  • Set up and navigate Linux-based bioinformatics environments on cloud/HPC systems
  • Assess and improve NGS data quality using standard QC tools
  • Execute alignment workflows for WGS and WES data
  • Perform germline and somatic variant calling
  • Apply functional annotation to variants using multiple databases
  • Prioritize and rank variants for clinical relevance
  • Assess pathogenicity using integrated evidence-based approaches
  • Build reproducible workflows with quality assurance measures
  • Interpret results in the context of clinical genomics and personalized medicine

Target Audience

This bootcamp is ideal for:

  • Graduate students and postdocs in genetics, genomics, or bioinformatics
  • Clinical geneticists and genetic counselors
  • Lab scientists and technicians in molecular diagnostics
  • Bioinformatics analysts and pipeline developers
  • Clinician-scientists in precision medicine projects
  • Academic faculty incorporating genomics into research
  • Healthcare professionals seeking foundational genomic literacy

Program Schedule

Day 1: Data Preparation and Quality Control

  • 09:00–10:30 – Welcome & Linux/Azure HPC Environment Setup
  • 10:45–12:00 – NGS Data Formats and Quality Assessment Tools
  • 13:00–14:30 – Hands-on: QC of Raw Sequencing Reads
  • 14:45–16:00 – Read Trimming and Filtering Strategies
  • 16:15–17:00 – Pipeline Automation and Best Practices

Day 2: Alignment and Variant Discovery

  • 09:00–10:30 – Reference Genome Preparation and Indexing
  • 10:45–12:00 – Alignment Algorithms and Tools
  • 13:00–14:30 – Hands-on: WGS/WES Alignment Workflows
  • 14:45–16:00 – Variant Calling (Germline & Somatic)
  • 16:15–17:00 – Variant QC and Filtering

Day 3: Annotation, Prioritization & Clinical Interpretation

  • 09:00–10:30 – Functional Annotation Tools & Databases
  • 10:45–12:00 – Hands-on: Variant Annotation
  • 13:00–14:30 – Variant Prioritization and Ranking
  • 14:45–16:00 – Clinical Interpretation and Pathogenicity Assessment
  • 16:15–17:00 – Case Studies and Workflow Integration
Download Masterclass Overview