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The rapid advancement of DNA sequencing has produced vast genomic datasets, yet interpreting and engineering genomic function remain fundamental challenges. Recent large language models have opened new avenues for genomic analysis, but…

Decoding the linguistic intricacies of the genome is a crucial problem in biology, and pre-trained foundational models such as DNABERT and Nucleotide Transformer have made significant strides in this area. Existing works have largely hinged…

Genomics · Quantitative Biology 2024-03-20 Zhihan Zhou , Yanrong Ji , Weijian Li , Pratik Dutta , Ramana Davuluri , Han Liu

Genomic foundation models have the potential to decode DNA syntax, yet face a fundamental tradeoff in their input representation. Standard fixed-vocabulary tokenizers fragment biologically meaningful motifs such as codons and regulatory…

The modeling of genomic sequences presents unique challenges due to their length and structural complexity. Traditional sequence models struggle to capture long-range dependencies and biological features inherent in DNA. In this work, we…

Computational Engineering, Finance, and Science · Computer Science 2026-03-09 Qirong Yang , Yucheng Guo , Zicheng Liu , Yujie Yang , Qijin Yin , Siyuan Li , Shaomin Ji , Linlin Chao , Xiaoming Zhang , Stan Z. Li

Genomic (DNA) sequences encode an enormous amount of information for gene regulation and protein synthesis. Similar to natural language models, researchers have proposed foundation models in genomics to learn generalizable features from…

Genome modeling conventionally treats gene sequence as a language, reflecting its structured motifs and long-range dependencies analogous to linguistic units and organization principles such as words and syntax. Recent studies utilize…

Machine Learning · Computer Science 2025-05-06 Lei Mao , Yuanhe Tian , Yan Song

Foundation models for single-cell RNA sequencing (scRNA-seq) have shown promising capabilities in capturing gene expression patterns. However, current approaches face critical limitations: they ignore biological prior knowledge encoded in…

Machine Learning · Computer Science 2025-03-04 Mufan Qiu , Xinyu Hu , Fengwei Zhan , Sukwon Yun , Jie Peng , Ruichen Zhang , Bhavya Kailkhura , Jiekun Yang , Tianlong Chen

DNA sequences encode critical genetic information, yet their variable length and discrete nature impede direct utilization in deep learning models. Existing DNA representation schemes convert sequences into numerical vectors but fail to…

Genomics · Quantitative Biology 2025-12-16 Zhiyuan Peng , Naifan Zhang , Yuanbo Tang , Yang Li

Gene finding is the task of identifying the locations of coding sequences within the vast amount of genetic code contained in the genome. With an ever increasing quantity of raw genome sequences, gene finding is an important avenue towards…

Genomics · Quantitative Biology 2025-05-07 Frederikke I. Marin , Dennis Pultz , Wouter Boomsma

This paper presents the Ensemble Nucleotide Byte-level Encoder-Decoder (ENBED) foundation model, analyzing DNA sequences at byte-level precision with an encoder-decoder Transformer architecture. ENBED uses a sub-quadratic implementation of…

Machine Learning · Computer Science 2024-08-26 Aditya Malusare , Harish Kothandaraman , Dipesh Tamboli , Nadia A. Lanman , Vaneet Aggarwal

In the global challenge of understanding and characterizing biodiversity, short species-specific genomic sequences known as DNA barcodes play a critical role, enabling fine-grained comparisons among organisms within the same kingdom of…

Tokenization sits at the boundary between high-throughput genomic input and GPU compute, posing challenges in both algorithm design and system throughput. Overlapping k-mer tokenization can introduce information leakage under masked…

Genomics · Quantitative Biology 2026-01-12 Eliatan Niktab , Hardip Patel

Advancements in genomic research such as high-throughput sequencing techniques have driven modern genomic studies into "big data" disciplines. This data explosion is constantly challenging conventional methods used in genomics. In parallel…

Genomics · Quantitative Biology 2023-10-06 Tianwei Yue , Yuanxin Wang , Longxiang Zhang , Chunming Gu , Haoru Xue , Wenping Wang , Qi Lyu , Yujie Dun

DNA sequencing is revolutionising the field of medicine. DNA sequencers, the machines which perform DNA sequencing, have evolved from the size of a fridge to that of a mobile phone over the last two decades. The cost of sequencing a human…

Genomics · Quantitative Biology 2021-01-14 Hasindu Gamaarachchi

Given the increasing volume and quality of genomics data, extracting new insights requires interpretable machine-learning models. This work presents Genomic Interpreter: a novel architecture for genomic assay prediction. This model…

Machine Learning · Computer Science 2023-06-29 Zehui Li , Akashaditya Das , William A V Beardall , Yiren Zhao , Guy-Bart Stan

We introduce Genome-Factory, the first integrated Python library for tuning, deploying, and interpreting genomic foundation models. Our core contribution is to simplify and unify the workflow for genomic model development: data collection,…

Genomics · Quantitative Biology 2026-05-18 Weimin Wu , Xuefeng Song , Yibo Wen , Qinjie Lin , Zhihan Zhou , Jerry Yao-Chieh Hu , Zhong Wang , Han Liu

This study demonstrates that generative large language models can be utilized in a more flexible manner for DNA sequence analysis and classification tasks compared to traditional transformer encoder-based models. While recent encoder-based…

Computation and Language · Computer Science 2025-03-07 Hyunwoo Yoo

We now need more than ever to make genome analysis more intelligent. We need to read, analyze, and interpret our genomes not only quickly, but also accurately and efficiently enough to scale the analysis to population level. There currently…

DNA language models are increasingly used to represent genomic sequence, yet their effectiveness depends critically on how raw nucleotides are converted into model inputs. Unlike natural language, DNA offers no canonical boundaries, making…

Genomics · Quantitative Biology 2026-05-21 Taewon Kim , Jihwan Shin , Hyomin Kim , Youngmok Jung , Jonghoon Lee , Won-Chul Lee , Sungsoo Ahn , Insu Han

The Genomic Foundation Model (GFM) paradigm is expected to facilitate the extraction of generalizable representations from massive genomic data, thereby enabling their application across a spectrum of downstream applications. Despite…

Genomics · Quantitative Biology 2024-06-06 Zicheng Liu , Jiahui Li , Siyuan Li , Zelin Zang , Cheng Tan , Yufei Huang , Yajing Bai , Stan Z. Li
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