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Main Authors: Safari, Monireh, Arias, Pablo Millan, Lowe, Scott C., Kari, Lila, Chang, Angel X., Taylor, Graham W.
Format: Preprint
Published: 2025
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Online Access:https://arxiv.org/abs/2502.18405
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author Safari, Monireh
Arias, Pablo Millan
Lowe, Scott C.
Kari, Lila
Chang, Angel X.
Taylor, Graham W.
author_facet Safari, Monireh
Arias, Pablo Millan
Lowe, Scott C.
Kari, Lila
Chang, Angel X.
Taylor, Graham W.
contents Masked language modelling (MLM) as a pretraining objective has been widely adopted in genomic sequence modelling. While pretrained models can successfully serve as encoders for various downstream tasks, the distribution shift between pretraining and inference detrimentally impacts performance, as the pretraining task is to map [MASK] tokens to predictions, yet the [MASK] is absent during downstream applications. This means the encoder does not prioritize its encodings of non-[MASK] tokens, and expends parameters and compute on work only relevant to the MLM task, despite this being irrelevant at deployment time. In this work, we propose a modified encoder-decoder architecture based on the masked autoencoder framework, designed to address this inefficiency within a BERT-based transformer. We empirically show that the resulting mismatch is particularly detrimental in genomic pipelines where models are often used for feature extraction without fine-tuning. We evaluate our approach on the BIOSCAN-5M dataset, comprising over 2 million unique DNA barcodes. We achieve substantial performance gains in both closed-world and open-world classification tasks when compared against causal models and bidirectional architectures pretrained with MLM tasks.
format Preprint
id arxiv_https___arxiv_org_abs_2502_18405
institution arXiv
publishDate 2025
record_format arxiv
spellingShingle Enhancing DNA Foundation Models to Address Masking Inefficiencies
Safari, Monireh
Arias, Pablo Millan
Lowe, Scott C.
Kari, Lila
Chang, Angel X.
Taylor, Graham W.
Machine Learning
Masked language modelling (MLM) as a pretraining objective has been widely adopted in genomic sequence modelling. While pretrained models can successfully serve as encoders for various downstream tasks, the distribution shift between pretraining and inference detrimentally impacts performance, as the pretraining task is to map [MASK] tokens to predictions, yet the [MASK] is absent during downstream applications. This means the encoder does not prioritize its encodings of non-[MASK] tokens, and expends parameters and compute on work only relevant to the MLM task, despite this being irrelevant at deployment time. In this work, we propose a modified encoder-decoder architecture based on the masked autoencoder framework, designed to address this inefficiency within a BERT-based transformer. We empirically show that the resulting mismatch is particularly detrimental in genomic pipelines where models are often used for feature extraction without fine-tuning. We evaluate our approach on the BIOSCAN-5M dataset, comprising over 2 million unique DNA barcodes. We achieve substantial performance gains in both closed-world and open-world classification tasks when compared against causal models and bidirectional architectures pretrained with MLM tasks.
title Enhancing DNA Foundation Models to Address Masking Inefficiencies
topic Machine Learning
url https://arxiv.org/abs/2502.18405