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Assessing the correctness of genome assemblies is an important step in any genome project. Several methods exist, but most are computationally intensive and, in some cases, inappropriate. Here I present baa.pl, a fast and easy-to-use…

Genomics · Quantitative Biology 2014-02-10 Joseph F. Ryan

Supervised learning methods with missing data have been extensively studied not just due to the techniques related to low-rank matrix completion. Also in unsupervised learning one often relies on imputation methods. As a matter of fact,…

Statistics Theory · Mathematics 2018-11-27 Andreas Elsener , Sara van de Geer

Although RNA-Seq data provide unprecedented isoform-level expression information, detection of alternative isoform regulation (AIR) remains difficult, particularly when working with an incomplete transcript annotation. We introduce…

Genomics · Quantitative Biology 2016-06-03 Stephen W. Hartley , James C. Mullikin

DNA is emerging as an increasingly attractive medium for data storage due to a number of important and unique advantages it offers, most notably the unprecedented durability and density. While the technology is evolving rapidly, the…

Emerging Technologies · Computer Science 2022-05-03 Dehui Lin , Yasamin Tabatabaee , Yash Pote , Djordje Jevdjic

Gene expression profiling technologies have been used in various applications such as cancer biology. The development of gene expression profiling has expanded the scope of target discovery in transcriptomic studies, and each technology…

Genomics · Quantitative Biology 2023-01-10 Hyeongseon Jeon , Juan Xie , Yeseul Jeon , Kyeong Joo Jung , Arkobrato Gupta , Won Chang , Dongjun Chung

Pretrained language models have shown superior performance on many natural language processing tasks, yet they still struggle at multi-step formal reasoning tasks like grade school math problems. One key challenge of finetuning them to…

Machine Learning · Computer Science 2023-02-20 Ansong Ni , Jeevana Priya Inala , Chenglong Wang , Oleksandr Polozov , Christopher Meek , Dragomir Radev , Jianfeng Gao

Spatial Transcriptomics is a groundbreaking technology that integrates histology images with spatially resolved gene expression profiles. Among the various Spatial Transcriptomics techniques available, Visium has emerged as the most widely…

Computer Vision and Pattern Recognition · Computer Science 2025-09-05 Daniela Ruiz , Paula Cárdenas , Leonardo Manrique , Daniela Vega , Gabriel M. Mejia , Pablo Arbeláez

Identifying mistakes (i.e., miscues) made while reading aloud is commonly approached post-hoc by comparing automatic speech recognition (ASR) transcriptions to the target reading text. However, post-hoc methods perform poorly when ASR…

Machine Learning · Computer Science 2025-05-30 Griffin Dietz Smith , Dianna Yee , Jennifer King Chen , Leah Findlater

Owing to its longevity and enormous information density, DNA, the molecule encoding biological information, has emerged as a promising archival storage medium. However, due to technological constraints, data can only be written onto many…

Emerging Technologies · Computer Science 2018-03-12 Reinhard Heckel , Gediminas Mikutis , Robert N. Grass

Predictive models ground many state-of-the-art developments in statistical brain image analysis: decoding, MVPA, searchlight, or extraction of biomarkers. The principled approach to establish their validity and usefulness is…

Quantitative Methods · Quantitative Biology 2017-06-26 Gaël Varoquaux

Back-translation is a critical component of Unsupervised Neural Machine Translation (UNMT), which generates pseudo parallel data from target monolingual data. A UNMT model is trained on the pseudo parallel data with translated source, and…

Computation and Language · Computer Science 2022-03-24 Zhiwei He , Xing Wang , Rui Wang , Shuming Shi , Zhaopeng Tu

This paper introduces a new family of reconstruction codes which is motivated by applications in DNA data storage and sequencing. In such applications, DNA strands are sequenced by reading some subset of their substrings. While previous…

Information Theory · Computer Science 2022-05-10 Yonatan Yehezkeally , Daniella Bar-Lev , Sagi Marcovich , Eitan Yaakobi

Due to its high data density and longevity, DNA is considered a promising medium for satisfying ever-increasing data storage needs. However, the diversity of errors that occur in DNA sequences makes efficient error-correction a challenging…

Information Theory · Computer Science 2020-11-12 Yuanyuan Tang , Farzad Farnoud

Diagnostic accuracy studies assess sensitivity and specificity of a new index test in relation to an established comparator or the reference standard. The development and selection of the index test is usually assumed to be conducted prior…

Methodology · Statistics 2022-08-30 Max Westphal , Antonia Zapf

Trajectory inference is a critical problem in single-cell transcriptomics, which aims to reconstruct the dynamic process underlying a population of cells from sequencing data. Of particular interest is the reconstruction of differentiation…

Genomics · Quantitative Biology 2026-04-06 Elodie Maignant , Tim Conrad , Christoph von Tycowicz

The problem of detecting a binding site -- a substring of DNA where transcription factors attach -- on a long DNA sequence requires the recognition of a small pattern in a large background. For short binding sites, the matching probability…

Genomics · Quantitative Biology 2009-11-13 Daniela Bianchi , Brunello Tirozzi

As sequencing technologies become more affordable and genomic databases expand continuously, the reuse of publicly available sequencing data emerges as a powerful strategy for studying microbial pathogens. Indeed, raw sequencing reads…

Quantitative Methods · Quantitative Biology 2025-05-16 Damien Richard , Nils Poulicard

The main challenge in de novo assembly of NGS data is certainly to deal with repeats that are longer than the reads. This is particularly true for RNA- seq data, since coverage information cannot be used to flag repeated sequences, of which…

Data Structures and Algorithms · Computer Science 2014-06-05 Gustavo Sacomoto , Blerina Sinaimeri , Camille Marchet , Vincent Miele , Marie-France Sagot , Vincent Lacroix

The analysis of single-cell RNA sequencing (scRNA-seq) data often involves fitting a latent variable model to learn a low-dimensional representation for the cells. Validating such a model poses a major challenge. If we could sequence the…

Methodology · Statistics 2023-07-25 Anna Neufeld , Joshua Popp , Lucy L. Gao , Alexis Battle , Daniela Witten

Motivation: Spliced alignment refers to the alignment of messenger RNA (mRNA) or protein sequences to eukaryotic genomes. It plays a critical role in gene annotation and the study of gene functions. Accurate spliced alignment demands…

Genomics · Quantitative Biology 2025-09-23 Siying Yang , Neng Huang , Heng Li