PhoRank 2.0: Improved Phenotype-Based Gene Ranking in VarSeq

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About this webinar

June 9, 2021

Presented By: Nate Fortier PhD, Director of Research

When performing variant analysis on whole exome or large gene panels, clinicians must sort through thousands of variants to determine which variants are most likely to be associated with the patient’s phenotypes. To assist with this process, we have implemented the PhoRank algorithm, which incorporates phenotypic associations to highlight the most relevant genes with potentially damaging variants. PhoRank 1.0 supports researchers leveraging all possible gene-disease associations by traversing multiple gene and pathway ontologies. Recent papers have demonstrated new techniques that have improved ranking performance in a clinical context. We have incorporated these new strategies into PhoRank 2.0: providing better ranking and improved computational performance for most clinically diagnostic and testing scenarios. Join us in this webinar as we cover:

  • Utility of gene ranking in genetic testing
  • Scenarios that warrant the use of PhoRank 2.0
  • New ranking strategies provided by recent papers
  • Benchmarks of PhoRank 2.0 on published datasets

Golden Helix provides a comprehensive solution for NGS testing labs to perform best practice guidelines such as ACMG and AMP. Our gene ranking methods provide a vital role in scaling tests to large gene panels and exomes. Please join us as we review the testing workflow and how this significant update to our gene ranking algorithm fits into the testing workflow.

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