PreprintCited by 33Genomics and Rare DiseasesMachine Learning in BioinformaticsProtein Structure and Dynamics

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Expert-guided protein Language Models enable accurate and blazingly fast fitness prediction

Open access
Marquet, Celine, Schlensok, Julius, Abakarova, Marina, Rost, Burkhard, Laine, Elodie·2024·Bioinformatics

Preprint — published as 10.1093/bioinformatics/btae621 · Paper page

Abstract

Exhaustive experimental annotation of the effect of all known protein variants remains daunting and expensive, stressing the need for scalable effect predictions. We introduce VespaG, a blazingly fast missense amino acid variant effect predictor, leveraging protein Language Model (pLM) embeddings as input to a minimal deep learning model. To overcome the sparsity of experimental training data, we created a dataset of 39 million single amino acid variants from the human proteome applying the multiple sequence alignment-based effect predictor GEMME as a pseudo standard-of-truth. This setup increases interpretability compared to the baseline pLM and is easily retrainable with novel or updated pLMs. Assessed against the ProteinGym benchmark (217 multiplex assays of variant effect - MAVE - with 2.5 million variants), VespaG achieved a mean Spearman correlation of 0.48 +/- 0.02, matching top-performing methods evaluated on the same data. VespaG has the advantage of being orders of magnitude faster, predicting all mutational landscapes of all proteins in proteomes such as Homo sapiens or Drosophila melanogaster in under 30 minutes on a consumer laptop (12-core CPU, 16 GB RAM).

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Metadata

Authors
Marquet, C., Schlensok, J., Abakarova, M., Rost, B., & Laine, E.
Affiliations
  • Technical University of Munich (DE)
  • Centre National de la Recherche Scientifique (FR)
Venue
Bioinformatics
Publisher
openRxiv
Published
2024-04-28
Volume
40
Issue
11
ISSN
1367-4803 (ISSN-L)
OpenAlex
W4404633904
Cited by
33
References
1
Citations by year
2026: 12 · 2025: 20
FWCI
8.49
Type
journal article
Language
en
Open access
Locations
  • Bioinformatics (publishedVersion, cc-by)
  • bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • HAL (submittedVersion, cc-by)
Funders
  • Alexander von Humboldt-Stiftung
  • European Commission (101087830)
  • Deutsche Forschungsgemeinschaft (DFG-GZ: RO1320/4-1, RO1320/4‐1)
  • Agence Nationale de la Recherche (ANR-20-CE44-0010)
  • Bundesministerium für Bildung und Forschung
  • Sorbonne Université
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Machine Learning in Bioinformatics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Protein Structure and Dynamics
Keywords
protein language models, protein language model embeddings, single amino acid variants, human proteome, Drosophila melanogaster, mutational landscape
MeSH terms
Deep Learning, Animals, Drosophila melanogaster, Humans, Proteins, Software, Computational Biology, Mutation, Missense, Proteome, Databases, Protein

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