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The shotgun sequencing process involves fragmenting a long DNA sequence (input string) into numerous shorter, unordered, and overlapping segments (referred to as \emph{reads}). The reads are sequenced, and later aligned to reconstruct the…

Information Theory · Computer Science 2025-09-26 Mohammed Ihsan Ali , Hrishi Narayanan , Prasad Krishnan

A common use case for OCR applications involves users uploading documents and progressively correcting automatic recognition to obtain the final transcript. This correction phase presents an opportunity for progressive adaptation of the OCR…

Computer Vision and Pattern Recognition · Computer Science 2025-03-26 Jan Kohút , Michal Hradiš

De novo genome assembly is the process of stitching short DNA sequences to generate longer DNA sequences, without using any reference sequence for alignment. It enables high-throughput genome sequencing and thus accelerates the discovery of…

Distributed, Parallel, and Cluster Computing · Computer Science 2018-01-16 Da Yan , Hongzhi Chen , James Cheng , Zhenkun Cai , Bin Shao

This work is addressing the problem of defect anomaly detection based on a clean reference image. Specifically, we focus on SEM semiconductor defects in addition to several natural image anomalies. There are well-known methods to create a…

Computer Vision and Pattern Recognition · Computer Science 2023-03-22 Nati Ofir , Yotam Ben Shoshan , Ran Badanes , Boris Sherman

Read mapping is a fundamental, yet computationally-expensive step in many genomics applications. It is used to identify potential matches and differences between fragments (called reads) of a sequenced genome and an already known genome…

A fundamental property of DNA is that the reverse complement (RC) of a sequence often carries identical biological meaning. However, state-of-the-art DNA language models frequently fail to capture this symmetry, producing inconsistent…

Machine Learning · Computer Science 2025-09-24 Mingqian Ma

High-quality human transcription is essential for training and improving Automatic Speech Recognition (ASR) models. Recent study~\cite{libricrowd} has found that every 1% worse transcription Word Error Rate (WER) increases approximately 2%…

Audio and Speech Processing · Electrical Eng. & Systems 2023-09-20 Hanbo Sun , Jian Gao , Xiaomin Wu , Anjie Fang , Cheng Cao , Zheng Du

This paper examines the use of a residual bootstrap for bias correction in machine learning regression methods. Accounting for bias is an important obstacle in recent efforts to develop statistical inference for machine learning methods. We…

Machine Learning · Statistics 2015-06-02 Giles Hooker , Lucas Mentch

We investigate saddlepoint approximations applied to the score test statistic in genome-wide association studies with binary phenotypes. The inaccuracy in the normal approximation of the score test statistic increases with increasing sample…

Linguistic anomalies detectable in spontaneous speech have shown promise for various clinical applications including screening for dementia and other forms of cognitive impairment. The feasibility of deploying automated tools that can…

Audio and Speech Processing · Electrical Eng. & Systems 2022-11-15 Changye Li , Trevor Cohen , Serguei Pakhomov

Data storage in DNA is developing as a possible solution for archival digital data. Recently, to further increase the potential capacity of DNA-based data storage systems, the combinatorial composite DNA synthesis method was suggested. This…

Information Theory · Computer Science 2024-05-28 Omer Sabary , Inbal Preuss , Ryan Gabrys , Zohar Yakhini , Leon Anavy , Eitan Yaakobi

Genome sequence analysis is a powerful tool in medical and scientific research. Considering the inevitable sequencing errors and genetic variations, approximate string matching (ASM) has been adopted in practice for genome sequencing.…

Ensembling a neural network is a widely recognized approach to enhance model performance, estimate uncertainty, and improve robustness in deep supervised learning. However, deep ensembles often come with high computational costs and memory…

In the recent years, DNA has emerged as a potentially viable storage technology. DNA synthesis, which refers to the task of writing the data into DNA, is perhaps the most costly part of existing storage systems. Accordingly, this high cost…

Information Theory · Computer Science 2022-04-15 Ohad Elishco , Wasim Huleihel

Recently, Transformer-based encoder-decoder models have demonstrated strong performance in multilingual speech recognition. However, the decoder's autoregressive nature and large size introduce significant bottlenecks during inference.…

Audio and Speech Processing · Electrical Eng. & Systems 2025-08-28 Yunkyu Lim , Jihwan Park , Hyung Yong Kim , Hanbin Lee , Byeong-Yeol Kim

Genome analysis fundamentally starts with a process known as read mapping, where sequenced fragments of an organism's genome are compared against a reference genome. Read mapping is currently a major bottleneck in the entire genome analysis…

Hardware Architecture · Computer Science 2020-10-29 Mohammed Alser , Zülal Bingöl , Damla Senol Cali , Jeremie Kim , Saugata Ghose , Can Alkan , Onur Mutlu

In line with the importance of RNA-seq, the bioinformatics community has produced numerous data analysis tools incorporating methods to correct sample-specific biases. However, few advanced simulation tools exist to enable benchmarking of…

Genomics · Quantitative Biology 2013-08-15 Botond Sipos , Greg Slodkowicz , Tim Massingham , Nick Goldman

Analysis of the sequence-structure relationship in RNA molecules are essential to evolutionary studies but also to concrete applications such as error-correction methodologies in sequencing technologies. The prohibitive sizes of the…

Quantitative Methods · Quantitative Biology 2013-05-31 Vladimir Reinharz , Yann Ponty , Jérôme Waldispühl

For single-cell or metagenomic sequencing projects, it is necessary to sequence with a very high mean coverage in order to make sure that all parts of the sample DNA get covered by the reads produced. This leads to huge datasets with lots…

The alignment between RNA sequences and structures in foundation models (FMs) has yet to be thoroughly investigated. Existing FMs have struggled to establish sequence-structure alignment, hindering the free flow of genomic information…

Genomics · Quantitative Biology 2024-12-16 Heng Yang , Renzhi Chen , Ke Li