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Evaluating DNA function understanding in genomic language models using evolutionarily implausible sequences

arXiv 2506.10271 ↗First posted 12 Jun 2025q-bio.QM cs.LG q-bio.GNcited by 0

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Abstract (arXiv)

Genomic language models (gLMs) hold promise for generating novel, functional DNA sequences for synthetic biology. However, realizing this potential requires models to go beyond evolutionary plausibility and understand how DNA sequence encodes gene expression and regulation. We introduce a benchmark called Nullsettes, which assesses how well models can predict in silico loss-of-function (LOF) mutations, in synthetic expression cassettes with little evolutionary precedent. Testing 12 state-of-the-art gLMs, we find that most fail to consistently detect these strong LOF mutations. All models show a sharp drop in predictive accuracy as the likelihood assigned to the original (nonmutant) sequence decreases, suggesting that gLMs rely heavily on pattern-matching to their evolutionary prior rather than on any mechanistic understanding of gene expression. Our findings highlight fundamental limitations in how gLMs generalize to engineered, non-natural sequences, and underscore the need for benchmarks and modeling strategies that prioritize functional understanding.

Key facts. No citing papers in the map yet (data through 14 Oct 2026). Builds on 10 of its 40 references that are in the map. First posted on arXiv 12 Jun 2025.

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10 of 40 references.

References · 10

  1. 2018BERT: Pre-training of Deep Bidirectional Transformers for Language Understandingcited by 40,399
  2. 2020Language Models are Few-Shot Learnerscited by 32,419
  3. 2023Mamba: Linear-Time Sequence Modeling with Selective State Spacescited by 4,718
  4. 2019BERT has a Mouth, and It Must Speak: BERT as a Markov Random Field Language Modelcited by 185
  5. 2023DNABERT-2: Efficient Foundation Model and Benchmark For Multi-Species Genomecited by 143
  6. 2024Caduceus: Bi-Directional Equivariant Long-Range DNA Sequence Modelingcited by 113
  7. 2025GENERator: A Long-Context Generative Genomic Foundation Modelcited by 22
  8. 2023A 5' UTR Language Model for Decoding Untranslated Regions of mRNA and Function Predictionscited by 20
  9. 2025Systems and Algorithms for Convolutional Multi-Hybrid Language Models at Scalecited by 12
  10. 2025METAGENE-1: Metagenomic Foundation Model for Pandemic Monitoringcited by 5

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