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tertiary-analysis.md 1007 B

Analysis Project Tasks

The success of NGS interpretation for your project is heavily dependent on the accuracy and adequacy of the information available regarding the clinical presentation phenotypes.

Typically, analysis associated with individuals, families, or larger cohorts begins with WES or WGS sequence data. The general steps are:

  • Application of variant prioritization within an analysis program by each assigned analyst to annotate and evaluate individual variation associated with each case.

  • A012 - Team Review - research genome
    Team meetings to review and select which variations are important to report.

  • Orthogonal testing of variations when required

  • A013 - Reporting WGS or WES research results
    Creating, reviewing, and delivery of reports

Visit SOPs_Analysis folder within box for additional SOPs.