<p>Unraveling the complex associations between human phenotypes and molecular pathways can pave the way to improved health and performance, but faces a fundamental challenge: the measurable genes, proteins, and metabolites vastly outnumber the participants in even the largest studies, yielding spurious correlations. To address this, we developed <b>PhenoMol</b>, a bioinformatic framework that integrates comprehensive phenotypic data predictive of outcomes and reduces multi-omic dimensionality using graph theory constrained by prior biological knowledge. This approach generates biologically informed “expression circuits” to identify causal patterns. Applied to a deeply characterized healthy cohort, PhenoMol successfully predicted elite physical performance and outperformed regression models lacking network-based dimensionality reduction. Designed to be versatile and generalizable, PhenoMol enables studies across small and large populations to predict wellness, performance, and disease outcomes. The software is openly available to support future research in health, disease, and performance optimization.</p>

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Integration of multiomic and multi-phenotypic data identifies biological pathways associated with physical fitness

  • Azar Alizadeh,
  • John Graf,
  • Matthew J. Misner,
  • Andrew A. Burns,
  • Fiona Ginty,
  • Kevin J. O’Donovan,
  • J. Kenneth Wickiser,
  • Nicholas Barringer,
  • Gregory Freisinger,
  • Neil Herm Hermansen,
  • J. Elizabeth McDonough,
  • Brian Davis,
  • Evelina R. Loghin,
  • Christine Surrette,
  • Peter Tu,
  • Justin Welch,
  • Oliver Boomhower,
  • Ralf Lenigk,
  • Rachel Sorrell,
  • Tyler Hammond,
  • Sara Peterson,
  • Alison Caron,
  • Leila Safazadeh,
  • Chrystal Chadwick,
  • Stephanie Stacey,
  • James Jobin,
  • Scott C. Evans,
  • Rui Xu,
  • Gurvinder S. Khinda,
  • Eric D. Williams,
  • Swapnil Chhabra,
  • Nhan Huynh,
  • Taisha Joseph,
  • Ernest Fraenkel,
  • Luca Marinelli

摘要

Unraveling the complex associations between human phenotypes and molecular pathways can pave the way to improved health and performance, but faces a fundamental challenge: the measurable genes, proteins, and metabolites vastly outnumber the participants in even the largest studies, yielding spurious correlations. To address this, we developed PhenoMol, a bioinformatic framework that integrates comprehensive phenotypic data predictive of outcomes and reduces multi-omic dimensionality using graph theory constrained by prior biological knowledge. This approach generates biologically informed “expression circuits” to identify causal patterns. Applied to a deeply characterized healthy cohort, PhenoMol successfully predicted elite physical performance and outperformed regression models lacking network-based dimensionality reduction. Designed to be versatile and generalizable, PhenoMol enables studies across small and large populations to predict wellness, performance, and disease outcomes. The software is openly available to support future research in health, disease, and performance optimization.