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Related Experiment Video

Updated: Oct 6, 2025

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Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics.

Alistair Ward1,2, Matt Velinder1, Tonya Di Sera1

  • 1Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.

Journal of Personalized Medicine
|January 21, 2022
PubMed
Summary

Clin.iobio is a web-based tool for collaborative precision genomics, improving diagnostic team communication and analysis of genetic variants for better patient treatment. It streamlines genomic data review and variant prioritization.

Keywords:
NICUclinicalcollaborationdiagnosticsgeneticsgenomicsrapid sequencingreanalysissoftwareundiagnosed diseasevisualization

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Area of Science:

  • Genomics
  • Bioinformatics
  • Clinical Genetics

Background:

  • Precision genomics aims to identify causative genetic variants for improved patient treatment.
  • Current clinical practice relies on static, text-based reports from expert analysts.
  • Lack of integrated tools hinders collaborative review and hypothesis testing among diagnostic teams.

Purpose of the Study:

  • To present clin.iobio, a web-based solution for collaborative genomic analysis.
  • To enable diagnostic team members to focus on their expertise while reviewing all diagnostic steps.
  • To integrate existing genomic visualization tools into a comprehensive diagnostic workflow.

Main Methods:

  • Development of clin.iobio, a web-based collaborative platform.
  • Integration of the iobio genomic visualization suite.
  • Implementation of a workflow including data quality review, phenotype-driven gene prioritization, variant prioritization, and findings summary.

Main Results:

  • Clin.iobio facilitates team-based review and contribution to genomic diagnostics.
  • The platform integrates data quality review, gene and variant prioritization, and reporting.
  • It supports dynamic phenotype-driven gene prioritization and comprehensive variant annotation.

Conclusions:

  • Clin.iobio offers a comprehensive solution for team-based precision genomics.
  • The tool enhances communication and efficiency in genomic data analysis.
  • Findings from clin.iobio can inform clinical practice and genomic considerations.