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Evolutionary Sparse Learning for Phylogenomics

Kumar, Sudhir, Sharma, Sudip·2021·Molecular Biology and Evolution

Published version of a preprint

Abstract

We introduce a supervised machine learning approach with sparsity constraints for phylogenomics, referred to as evolutionary sparse learning (ESL). ESL builds models with genomic loci—such as genes, proteins, genomic segments, and positions—as parameters. Using the Least Absolute Shrinkage and Selection Operator, ESL selects only the most important genomic loci to explain a given phylogenetic hypothesis or presence/absence of a trait. ESL models do not directly involve conventional parameters such as rates of substitutions between nucleotides, rate variation among positions, and phylogeny branch lengths. Instead, ESL directly employs the concordance of variation across sequences in an alignment with the evolutionary hypothesis of interest. ESL provides a natural way to combine different molecular and nonmolecular data types and incorporate biological and functional annotations of genomic loci in model building. We propose positional, gene, function, and hypothesis sparsity scores, illustrate their use through an example, and suggest several applications of ESL. The ESL framework has the potential to drive the development of a new class of computational methods that will complement traditional approaches in evolutionary genomics, particularly for identifying influential loci and sequences given a phylogeny and building models to test hypotheses. ESL’s fast computational times and small memory footprint will also help democratize big data analytics and improve scientific rigor in phylogenomics.

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Crossref · 10.1093/molbev/msab227

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  • ESL uses binary encoding to enable joint analysis of any genetic feature, such as SNPs or presence/absence of a genetic element, as well as epigenetic or environmental variables.

    “ESL uses binary encoding to enable joint analysis of any genetic feature, such as SNPs or presence/absence of a genetic element, as well as epigenetic or environmental variables.”

    From From Trees to Traits: A Review of Advances in PhyloG2P Methods and Future Directions (2025) · cites this paper as Kumar and Sharma 2021

  • ESL is orders of magnitude less computationally intensive than the PhyloG2P models discussed in this review.

    “As well as its capacity to integrate a variety of variables relevant to phenotypic prediction, ESL is also orders of magnitude less computationally intensive than the PhyloG2P models discussed in this review.”

    From From Trees to Traits: A Review of Advances in PhyloG2P Methods and Future Directions (2025) · cites this paper as Kumar and Sharma 2021

  • One approach to including other forms of molecular variation is to use machine learning models, such as the Evolutionary Sparse Learning (ESL) model of Kumar and Sharma (2021).

    “One approach to including these other forms of molecular variation is to use machine learning models, such as the Evolutionary Sparse Learning (ESL) model of Kumar and Sharma (2021).”

    From From Trees to Traits: A Review of Advances in PhyloG2P Methods and Future Directions (2025) · cites this paper as Kumar and Sharma 2021

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Metadata

Authors
Kumar, S., & Sharma, S.
Affiliations
Institute for Genomics and Evolutionary Medicine, Temple University, Philadelphia, PA, USA
Venue
Molecular Biology and Evolution
Published
2021-08-03
Volume
38
Issue
11
Pages
4674-4682
ISSN
  • 0737-4038
  • 1537-1719
Cited by
22
References
5
Language
en
Funders
U.S. National Institutes of Health (GM-0126567-01)

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