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Phylogenetic profiling: how much input data is enough?

Nives Škunca1, Christophe Dessimoz2

  • 1ETH Zürich, Department of Computer Science, Universitätstr. 19, 8092 Zürich, Switzerland; Swiss Institute of Bioinformatics, Universitätstr. 6, 8092 Zürich, Switzerland; University College London, Gower St, London WC1E 6BT, UK.

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Summary
This summary is machine-generated.

Phylogenetic profiling for gene function prediction benefits from more data, but adding over ~100 genomes yields diminishing returns. Increasing functional annotations remains highly beneficial for accurate gene function predictions.

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Area of Science:

  • Computational Biology
  • Bioinformatics
  • Genomics

Background:

  • Phylogenetic profiling predicts gene function using gene presence/absence patterns across species.
  • Recent research emphasizes methodological improvements, with less focus on input data size effects.

Purpose of the Study:

  • To determine the optimal number of genomes and functional annotations for effective phylogenetic profiling.
  • To investigate the impact of data size on prediction accuracy.

Main Methods:

  • Decomposition analysis of predictive accuracy improvement based on added genomes and annotations.
  • Evaluation of phylogenetic diversity's effect on prediction quality.

Main Results:

  • Predictive accuracy generally increases with more data, but diminishing returns are observed beyond ~100 genomes.
  • Increasing the number of functional annotations consistently improves accuracy.
  • Maximizing phylogenetic diversity offers minor improvements compared to increasing genome numbers.

Conclusions:

  • The number of genomes is a critical factor, with a plateau around 100 for phylogenetic profiling effectiveness.
  • Functional annotation quantity is crucial and remains beneficial with increasing numbers.
  • Findings align with the Open World Assumption regarding incomplete functional annotation databases.