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In the last decade a number of algorithms and associated software have been developed to align next generation sequencing (NGS) reads with relevant reference genomes. The accuracy of these programs may vary significantly, especially when…

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

Genome sequence analysis plays a pivotal role in enabling many medical and scientific advancements in personalized medicine, outbreak tracing, and forensics. However, the analysis of genome sequencing data is currently bottlenecked by the…

Hardware Architecture · Computer Science 2021-11-04 Damla Senol Cali

Diagnostic datasets that can detect biased models are an important prerequisite for bias reduction within natural language processing. However, undesired patterns in the collected data can make such tests incorrect. For example, if the…

Computation and Language · Computer Science 2020-12-16 Vid Kocijan , Oana-Maria Camburu , Thomas Lukasiewicz

Gaps, dropouts and short clips of corrupted audio are a common problem and particularly annoying when they occur in speech. This paper uses machine learning to regenerate gaps of up to 320ms in an audio speech signal. Audio regeneration is…

Sound · Computer Science 2023-05-11 Deniss Strods , Alan F. Smeaton

Nanopore sequencing is a widely-used high-throughput genome sequencing technology that can sequence long fragments of a genome into raw electrical signals at low cost. Nanopore sequencing requires two computationally-costly processing steps…

Gene annotation has traditionally required direct comparison of DNA sequences between an unknown gene and a database of known ones using string comparison methods. However, these methods do not provide useful information when a gene does…

Machine Learning · Computer Science 2019-09-17 James K. Senter , Taylor M. Royalty , Andrew D. Steen , Amir Sadovnik

We propose a method for program generation based on semantic scaffolds, lightweight structures representing the high-level semantic and syntactic composition of a program. By first searching over plausible scaffolds then using these as…

Computation and Language · Computer Science 2020-05-13 Ruiqi Zhong , Mitchell Stern , Dan Klein

In just the last decade, a multitude of bio-technologies and software pipelines have emerged to revolutionize genomics. To further their central goal, they aim to accelerate and improve the quality of de novo whole-genome assembly starting…

Genomics · Quantitative Biology 2015-06-11 Francesco Vezzi , Giuseppe Narzisi , Bud Mishra

Prokaryotic gene prediction plays an important role in understanding the biology of organisms and their function with applications in medicine and biotechnology. Although the current gene finders are highly sensitive in finding long genes,…

Genomics · Quantitative Biology 2023-07-21 Tony Tu , Gautham Krishna , Amirali Aghazadeh

DNA is a leading candidate as the next archival storage media due to its density, durability and sustainability. To read (and write) data DNA storage exploits technology that has been developed over decades to sequence naturally occurring…

Emerging Technologies · Computer Science 2022-05-12 Jasmine Quah , Omer Sella , Thomas Heinis

Retrieval-Augmented Generation (RAG) systems enhance text generation by incorporating external knowledge but often struggle when retrieving context across different text modalities due to semantic gaps. We introduce a generalized…

Machine Learning · Computer Science 2024-11-01 Arihan Yadav , Alan McMillan

Second-generation sequencing technologies have replaced array-based technologies and become the default method for genomics and epigenomics analysis. Second-generation sequencing technologies sequence tens of millions of DNA/cDNA fragments…

Methodology · Statistics 2017-02-08 Ping Ma , Nan Zhang , Jianhua Z. Huang , Wenxuan Zhong

DNA sequence encoding is fundamental to gene function prediction, protein synthesis, and diverse downstream biological tasks. Despite the substantial progress achieved by large-scale DNA sequence pretraining, existing studies have…

Machine Learning · Computer Science 2026-04-21 Zhijiang Tang , Jiaxin Qi , Yan Cui , Jinli Ou , Yuhua Zheng , Jianqiang Huang

Each human genome is a 3 billion base pair set of encoding instructions. Decoding the genome using deep learning fundamentally differs from most tasks, as we do not know the full structure of the data and therefore cannot design…

Machine Learning · Computer Science 2016-05-24 Laura Deming , Sasha Targ , Nate Sauder , Diogo Almeida , Chun Jimmie Ye

Pre-trained large language models demonstrate potential in extracting information from DNA sequences, yet adapting to a variety of tasks and data modalities remains a challenge. To address this, we propose DNAGPT, a generalized DNA…

Genomics · Quantitative Biology 2023-09-01 Daoan Zhang , Weitong Zhang , Yu Zhao , Jianguo Zhang , Bing He , Chenchen Qin , Jianhua Yao

Large language models have demonstrated remarkable capabilities across many tasks, yet face significant challenges when dealing with recursive reasoning problems, those requiring the resolution of nested hierarchical structures. While prior…

Artificial Intelligence · Computer Science 2025-12-03 Zhiyuan He

DNA sequencing is the basic workhorse of modern day biology and medicine. Shotgun sequencing is the dominant technique used: many randomly located short fragments called reads are extracted from the DNA sequence, and these reads are…

Information Theory · Computer Science 2013-02-15 Abolfazl Motahari , Guy Bresler , David Tse

Computing haplotypes from sequencing data, i.e. haplotype assembly, is an important component of molecular and population genetics problems, including interpreting the effects of genetic variation on complex traits and reconstructing…

Genomics · Quantitative Biology 2026-03-12 Marjan Hosseini , Ella Veiner , Thomas Bergendahl , Tala Yasenpoor , Zane Smith , Margaret Staton , Derek Aguiar

The de novo assembly of large, complex genomes is a significant challenge with currently available DNA sequencing technology. While many de novo assembly software packages are available, comparatively little attention has been paid to…

Genomics · Quantitative Biology 2013-07-31 Jared T. Simpson